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Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal... more
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern of inheritance and variable expressivity. The clinical picture includes arthritis, uveitis, skin rash, and granulomatous inflammation. Central nervous system involvement is seldom reported, although some isolated cases of seizures, neurosensorial hearing loss, and transient cranial nerve palsy have been described. Treatment consists of nonsteroidal anti-inflammatory drugs, corticosteroids, and immunosuppressive agents, among which anti-tumor-necrosis-factor-alpha (TNF-α) biologic agents, such as etanercept, play an important role. Among the major adverse effects of TNF-αinhibitors, demyelinating disease, multiple sclerosis, and acute transverse myelitis have been reported in adults. We describe a case of pediatric Blau syndrome affected...
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Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic... more
Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in< 15± of our HM patients furt...
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Background Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the... more
Background Mutations in the gene encoding thymidine kinase 2 (TK2) result in the myopathic form of mitochondrial DNA depletion syndrome which is a mitochondrial encephalomyopathy presenting in children. In order to unveil some of the mechanisms involved in this pathology and to identify potential biomarkers and therapeutic targets we have investigated the gene expression profile of human skeletal muscle deficient for TK2 using cDNA microarrays. Results We have analysed the whole transcriptome of skeletal muscle from patients with TK2 mutations and compared it to normal muscle and to muscle from patients with other mitochondrial myopathies. We have identified a set of over 700 genes which are differentially expressed in TK2 deficient muscle. Bioinformatics analysis reveals important changes in muscle metabolism, in particular, in glucose and glycogen utilisation, and activation of the starvation response which affects aminoacid and lipid metabolism. We have identified those transcrip...
Research Interests: Skeletal muscle biology, Computational Biology, Biology, Adolescent, Medicine, and 15 moreSignal Transduction, Biological Sciences, Mitochondrial DNA, Humans, Child, Infant, Caspase, Skeletal Muscle, Adult, Biological markers, Myocyte, Thymidine Kinase, Gene expression profiling, Child preschool, and Medical and Health Sciences
In order to evaluate the contribution of 19 serotonin‐related genes to the susceptibility to migraine in a Spanish population we performed a case–control association study of 122 single nucleotide polymorphisms (SNPs), selected according... more
In order to evaluate the contribution of 19 serotonin‐related genes to the susceptibility to migraine in a Spanish population we performed a case–control association study of 122 single nucleotide polymorphisms (SNPs), selected according to genetic coverage parameters, in 528 migraine patients —308 with migraine without aura (MO) and 220 with migraine with aura (MA)— and 528 sex‐matched migraine‐free controls. The single‐marker analysis identified nominal associations with the migraine phenotype or with the MO or MA subtypes. The multiple‐marker analysis revealed risk haplotypes in three genes that remained significantly associated with migraine after correction by permutations. Two‐marker risk haplotypes were identified in the HTR2B (rs16827801T‐rs10194776G) and MAOA (rs3027400G‐rs2072743C) genes conferring susceptibility to MO, and a four‐marker haplotype in DDC was specific of MA (rs2329340A‐rs11974297C‐rs2044859T‐rs11761683G). The present study supports the involvement of HTR2B ...
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... Sección de Neurología Infantil. Hospitals Vall d&#x27;Hebron de Barcelona. *Sección Neurología Infantil. **Servicio de Pediatría. ... Hospital Materno-Infantil Vall d&#x27;Hebron. Passeig Vall d&#x27;Hebron, s/n.Barcelona... more
... Sección de Neurología Infantil. Hospitals Vall d&#x27;Hebron de Barcelona. *Sección Neurología Infantil. **Servicio de Pediatría. ... Hospital Materno-Infantil Vall d&#x27;Hebron. Passeig Vall d&#x27;Hebron, s/n.Barcelona 08035 Recibido: Abril 1997 Aceptado: Septiembre 1997 Resumen. ...
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Introduction. Chorea is an infrequent disorder at the paediatric age which has a number of both hereditary and acquired causes. Post-streptococcal or Sydenham&#x27;s chorea(SC) is still the main cause of chorea in children, in spite... more
Introduction. Chorea is an infrequent disorder at the paediatric age which has a number of both hereditary and acquired causes. Post-streptococcal or Sydenham&#x27;s chorea(SC) is still the main cause of chorea in children, in spite of the drop in prevalence of rheumatic fever ...
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Naturally occurring cell death has been extensively analyzed in many tissues, but little data exist regarding its occurrence in developing skeletal muscle. We investigated its occurrence and time course in rat hindlimb skeletal muscles... more
Naturally occurring cell death has been extensively analyzed in many tissues, but little data exist regarding its occurrence in developing skeletal muscle. We investigated its occurrence and time course in rat hindlimb skeletal muscles during the first 3 weeks of postnatal development, its morphological and biochemical features, and the concomitant expression of Bax, Bcl-2, and Bcl-x(L). Myofibers displaying morphological features of apoptosis were found during the first 9 postnatal days. Terminal transferase (TdT)-mediated dUTP-biotinylated nick end labeling (TUNEL)-positive nuclei were present at all days examined and peaked between postnatal days 5 and 7. Total genomic DNA extracted from muscles at postnatal days 5, 7, and 9 showed internucleosomal fragmentation after Southern hybridization. Constitutive levels of Bax, Bcl-2, and Bcl-x(L) were detected by means of reverse transcriptase-polymerase chain reaction (RT-PCR) analysis at all ages examined, with a moderate increase around the period of maximal apoptosis. The results show that apoptosis and a concurrent expression of some genes of the Bcl-2 family, occur postnatally in rat skeletal muscle. This information is relevant to studies addressing the mechanisms of developmental muscle injuries.
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Research Interests: Genetics, Cognitive Science, Neurogenetics, Adolescent, Humans, and 15 moreChild, Female, Male, Linkage, Genetic determinism, Genetic linkage analysis, Human Genome, Chromosome, Adult, Genetic Mapping, Migraine With Aura, Linkage Analysis, DNA mutational analysis, Child preschool, and genetic heterogeneity
Encephalopathy due to valproic acid (VPA) is a rare complication leading to a disorder that affects the patient's mental status to a greater or lesser extent and which can be accompanied by a paradoxical worsening of the seizures. The... more
Encephalopathy due to valproic acid (VPA) is a rare complication leading to a disorder that affects the patient's mental status to a greater or lesser extent and which can be accompanied by a paradoxical worsening of the seizures. The diagnosis is obvious when it appears within the context of hyperammonemia or a liver pathology, but can be difficult to diagnose if it appears in isolation in patients who show no other signs of intoxication due to VPA. We report the case of an adolescent who suffered idiopathic generalised epilepsy and presented sub-acute cognitive impairment and a worsening of his pattern of seizures some months after starting treatment with VPA. These manifestations were accompanied by a slowing of the baseline electroencephalogram (EEG) tracing; no biochemical signs of overdosage or toxicity that could be attributed to the drug or any other possible aetiology were observed. Withdrawing VPA resulted in a swift improvement in the patient's mental status and i...
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The study of polymicrogyria with magnetic resonance imaging (MRI) has made possible the report of several series of patients in which the main clinical manifestations differ considerably. The aims of the study were to review the... more
The study of polymicrogyria with magnetic resonance imaging (MRI) has made possible the report of several series of patients in which the main clinical manifestations differ considerably. The aims of the study were to review the literature and to know the clinical variability of the patients attended in a neuropediatric service. A retrospective study was conducted between 1989-2011 for the patients attended in our neuro-pediatric service and diagnosed of polymicrogyria by MRI. On the totality of 44 patients having polymicrogyria, 9 did not satisfy de inclusion criteria (Barkovich's radiological criteria). The polymicrogyria was bilateral in 22/35 patients (1 frontal, 22 perisylvian) and unilateral in 13/35 (2 frontal, the rest perisylvian). All patients with bilateral polymicrogyria had intellectual disability, 71% had global development delay, 75% had oromotor disorder and 40% had epilepsy. Patients with unilateral polymicrogyria had the following symptoms: 65% intellectual dis...
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The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We... more
The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We report a second patient with the same mutation and phenotype.
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Research Interests: Pain, Magnetic Resonance Imaging, Pediatric Neurology, Humans, Child, and 14 moreMale, Differential Diagnosis, Nuclear Magnetic Resonance Imaging, Ophthalmoplegia, Neurosciences, Carotid Stenosis, Nino, Magnetic resonance angiography, Magnetic resonance image, Blepharoptosis, Cavernous sinus, Paediatrics and reproductive medicine, Macho, and Remission Spontaneous
We report a patient with nemaline myopathy of sporadic genetical character, who presented with respiratory insufficiency in the neonatal period and has been followed for 4 years. The evolution towards progressive improvement is described... more
We report a patient with nemaline myopathy of sporadic genetical character, who presented with respiratory insufficiency in the neonatal period and has been followed for 4 years. The evolution towards progressive improvement is described in detail, particularly the therapeutic problems posed by the respiratory insufficiency and the alterations of swallowing. This is the first patient reported in the literature who has survived symptomatic nemaline myopathy presenting in the newborn period. The experience of this case may justify the use of exceptional therapeutic measures in other patients.
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Many authors described the effects on the fetus of maternal cocaine abuse during pregnancy. Vasoconstriction appears to be the common mechanism of action leading to a wide range of fetal anomalies. We report on an infant with multiple... more
Many authors described the effects on the fetus of maternal cocaine abuse during pregnancy. Vasoconstriction appears to be the common mechanism of action leading to a wide range of fetal anomalies. We report on an infant with multiple cranial-nerve involvement attributable to brainstem dysgenesis, born to a cocaine-addicted mother.
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This report describes a male infant who presented since birth with rigidity and hypokinesia. Severe developmental delay, episodic central hypoventilation, and drug-resistant epilepsy progressively added to the extrapyramidal signs in the... more
This report describes a male infant who presented since birth with rigidity and hypokinesia. Severe developmental delay, episodic central hypoventilation, and drug-resistant epilepsy progressively added to the extrapyramidal signs in the following months and led to the patient&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s death at 10 months of age. Neuroradiologic and neurometabolic evaluations were negative. Normal cerebrospinal metabolites excluded a defect in dopamine metabolism, and treatment with levodopa failed to improve his motor symptoms. Neuropathologic findings demonstrated dentato-olivary dysplasia. While isolated dentato-olivary dysplasia has been described in a few cases of Ohtahara syndrome, to our knowledge, the association with infantile parkinsonism has not been previously reported.
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Research Interests: Skeletal muscle biology, Mitochondria, Family history, Pediatric Neurology, Humans, and 15 moreLiver, Metabolic diseases, Mutation, Infant, Enzyme, Peripheral Neuropathy, Spectrum, Skeletal Muscle, Neurosciences, Brain Diseases, Age at Onset, Electron Microscope, Child preschool, Liver biopsy, and Paediatrics and reproductive medicine
A 5-year-old patient developed pseudotumor cerebri, spinal and radicular pain, and hyporeflexia. Ataxia and multiple cranial nerve involvement also were evident. With the exception of residual hyporeflexia and the abnormalities present in... more
A 5-year-old patient developed pseudotumor cerebri, spinal and radicular pain, and hyporeflexia. Ataxia and multiple cranial nerve involvement also were evident. With the exception of residual hyporeflexia and the abnormalities present in the electrophysiologic studies, the patient&#39;s prompt recovery suggested the diagnosis of Guillain-Barré polyradiculoneuritis.
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Research Interests: Magnetic Resonance Imaging, Treatment Outcome, Pediatric Neurology, Humans, Child, and 12 moreFemale, Male, Infant, Necrosis, Retrospective Studies, Disorders of Consciousness, Seizures, X ray Computed Tomography, Neurosciences, Corpus striatum, Child preschool, and Paediatrics and reproductive medicine
Research Interests: Magnetic Resonance Imaging, Epilepsy, Electroencephalography, Adolescent, Intellectual Disability, and 15 morePediatric Neurology, Brain, Pregnancy, Humans, Child, Female, Male, Electromyography, Atrophy, Physical examination, Neuromuscular diseases, Neurosciences, Arthrogryposis, Child preschool, and Paediatrics and reproductive medicine
We report the clinical experience of 18 patients with the congenital form of myotonic dystrophy, the majority of whom were diagnosed during the neonatal period and monitored from 5 to 14 years. Prematurity associated with congenital... more
We report the clinical experience of 18 patients with the congenital form of myotonic dystrophy, the majority of whom were diagnosed during the neonatal period and monitored from 5 to 14 years. Prematurity associated with congenital myotonic dystrophy gives rise to the severest clinical manifestations. Among them, respiratory involvement is common and is the leading cause of death in the neonatal period. Weakness and foot deformities secondary to muscle involvement are the predominant clinical features of this group of patients from birth to age 3 or 4 years. Once muscle strength improves, learning disabilities and behavioral disturbances become the main clinical problems. All our patients, when tested after 5 years of age, had intelligence quotients under 65, clearly below the average intelligence quotient of their mothers (IQ = 80). There is no relationship between the degree of mothers&amp;amp;amp;amp;#39; and patients&amp;amp;amp;amp;#39; disease. No patient has presented problems with routine immunizations, and no complications were observed in the 7 patients who underwent surgery under general anesthesia. Among the surviving patients, no correlation can be established between severity of disease in the neonatal period and the magnitude of sequelae as teenagers. Mental and behavioral disturbances are the factors which mainly influence the long-term management and prognosis of this cohort of individuals.
Research Interests: Intelligence, Quality of life, Adolescent, Pediatric Neurology, Humans, and 15 moreChild, Female, Male, Infant, Myotonic Dystrophy, Electromyography, Risk factors, Newborn Infant, Survival Rate, Learning Disorders, Risk Factors, Neurosciences, Neurologic Examination, Child preschool, and Paediatrics and reproductive medicine
Background Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed... more
Background Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression of the DMD mutant allele. However the prognostic use of XCI analysis is controversial. We aimed to evaluate the correlation between X-chromosome inactivation and development of clinical symptoms in a series of symptomatic female carriers of dystrophinopathy. Methods We reviewed the clinical, pathological and genetic features of twenty-four symptomatic carriers covering a wide spectrum of clinical phenotypes. DMD gene analysis was performed using MLPA and whole gene sequencing in blood DNA and muscle cDNA. Blood and muscle DNA was used for X-chromosome inactivation (XCI) analysis thought the AR methylation assay in symptomatic carriers and their female relatives, asymptomatic carriers as well as ...
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Our aim was to investigate the correlations between head circumference (HC) growth and neurological impairment in microcephalic patients.HC charts of 3,269 patients from a tertiary pediatric neurology section were reviewed and 136... more
Our aim was to investigate the correlations between head circumference (HC) growth and neurological impairment in microcephalic patients.HC charts of 3,269 patients from a tertiary pediatric neurology section were reviewed and 136 microcephalic participants were selected. Standardized HC Minimum, HC Drop, and HC Catch-up variables were defined. Children with evidence of significant learning disability and/or significant cerebral palsy were classified within the neurologically impaired group and the rest of participants within the normal group.Using discriminant analysis, we found that HC Minimum and HC Drop were relevant markers of neurological impairment. A positive HC Catch-up was significantly linked to a better outcome although this variable did not add significant information to HC Minimum and HC Drop. A Fisher linear discrimination cutoff function (C-function) was obtained as C = HC Minimum + HC Drop with a cutoff level of C = -4.28 standard deviations (SD).In our cohort, the addition of the lowest HC z-score to the preceding HC z-score drop was below -4.28 SD in 6 out of 10 neurologically impaired patients , whereas in the normal group, the result was over -4.28 SD in 9 out of 10 participants.
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Research Interests: Regeneration, Skeletal muscle biology, Basement Membrane, Lasers, Laser Capture Microdissection, and 15 moreMicrodissection, Mice, Animals, Medical Physiology, Clinical Sciences, mRna expression levels, Skeletal Muscle, Neuromuscular Disorders, Gene Expression Analysis, Expression analysis, Neuromuscular, Neurosciences, Gene Expression Regulation, reverse transcriptase polymerase chain reaction, and MyoD Protein
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Research Interests: Genetics, Polymorphism, El Salvador, Humans, Mutation, and 15 moreFemale, Animals, Male, Alternative splicing, Medical Physiology, Clinical Sciences, Neuromuscular Disorders, Alternative Splicing, Amino Acid Sequence, Base Sequence, Autosomal Recessive, Lysosomes, Neuromuscular, Neurosciences, and Age of Onset
Research Interests: Genetics, Cognitive Science, Neurogenetics, Adolescent, Humans, and 15 moreChild, Female, Male, Linkage, Genetic determinism, Genetic linkage analysis, Human Genome, Chromosome, Adult, Genetic Mapping, Migraine With Aura, Linkage Analysis, DNA mutational analysis, Child preschool, and genetic heterogeneity
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Research Interests: Engineering, Adolescent, Lipids, Humans, Child, and 15 moreMethylation, Inborn errors of metabolism, Infant, Gas Chromatography, Adult, Fatty Acid Methyl Ester, Fatty Acid, X chromosome, Erythrocytes, Arachidonic Acid, Docosahexaenoic Acid, Linoleic Acid, Child preschool, plasmalogens, and Medical and Health Sciences
We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological disorders including paroxysmal exercise-induced dyskinesia, migraine without or with aura, absence seizures and... more
We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological disorders including paroxysmal exercise-induced dyskinesia, migraine without or with aura, absence seizures and writer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s cramp. CSF/serum glucose ratio was moderately decreased in both patients. Mutational analysis of SLC2A1 gene identified a de novo heterozygous missense mutation in exon 4. This novel mutation has been previously showed to disrupt glucose transport in vitro. Both patients showed immediate and near-complete response to ketogenic diet. This clinical observation suggests that a high index of suspicion for GLUT1 deficiency syndrome is warranted in evaluating patients with multiple neurological paroxysmal events.
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Research Interests: Skeletal muscle biology, Magnetic Resonance Imaging, Mitochondria, Spinal Muscular Atrophy, Mitochondrial DNA, and 15 moreHumans, Child, Muscle, Male, The, Electron Transport, Clinical Sciences, Genotype, Deficiency, Disease Progression, Thymidine Kinase, Deficit, Genetic Markers, Neurosciences, and DNA mutational analysis
Research Interests: Magnetic Resonance Imaging, Electroencephalography, Infant Toddler Care, Perinatal Medicine, Pregnancy, and 13 moreHumans, Female, Male, Infant, Electromyography, Clinical Sciences, Newborn Infant, Retrospective Studies, Neonatal Intensive Care Unit, Cranial Nerves, Brain stem, Infant Care, and Paediatrics and reproductive medicine
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The mitochondrial DNA m.13513G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present with ptosis... more
The mitochondrial DNA m.13513G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present with ptosis and cardiac conduction abnormalities, particularly Wolff-Parkinson-White syndrome, and have a late clinical onset, which contrasts with the typical infantile form. The authors describe a patient presenting with intrauterine growth retardation and visual impairment at 3 months of age, followed by infantile spasms, severe gastrointestinal dysmotility, and neurological regression. The patient had hyperlactacidemia and bilateral basal ganglia and brainstem lesions on MRI. Although he did not present cardiac conduction abnormalities, his mother had been diagnosed with Wolff-Parkinson-White syndrome. The m.13513G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation was found in the patient&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s muscle and in several tissues of his mother. The present results expand the phenotype of Leigh syndrome associated with the m.13513G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation, which should be suspected in patients with early-onset mitochondrial encephalopathy with infantile spasms or prominent gastrointestinal smooth muscle involvement.
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We report a case of a mixed sensorimotor, predominantly axonal mononeuritis multiplex that developed after a severe meningococcal septicemia and disseminated intravascular coagulation (DIC) with associated distal limb necrosis. Ischemia... more
We report a case of a mixed sensorimotor, predominantly axonal mononeuritis multiplex that developed after a severe meningococcal septicemia and disseminated intravascular coagulation (DIC) with associated distal limb necrosis. Ischemia resulting from the DIC-induced multiple vascular occlusions is suggested as the leading cause of this neuropathy.
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To report two unrelated patients with a new phenotype of nonketotic hyperglycinemia associated with idiopathic pulmonary hypertension. Clinical findings included rapidly progressive neurological deterioration with onset in the first year... more
To report two unrelated patients with a new phenotype of nonketotic hyperglycinemia associated with idiopathic pulmonary hypertension. Clinical findings included rapidly progressive neurological deterioration with onset in the first year of life characterized by developmental regression without seizures or electroencephalogram abnormalities during follow-up. Both patients died before the age of 18 months. Glycine cleavage system deficiency was confirmed by enzymatic studies in frozen liver. Molecular analysis in the related genes showed no pathogenic mutation. Radiological and pathological findings were consistent with progressive vacuolating encephalopathy. Our patients with biochemical and enzymatic parameters consistent with atypical nonketotic hyperglycinemia. The clinical and radiological evolution, as progressive vacuolating leukoencephalopathy and the association with pulmonary hypertension constitute a previously unrecognized variant.
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We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is... more
We report the molecular findings in two independent patients presenting with progressive generalized dystonia and bilateral striatal necrosis in whom we have identified a mutation (T14487C) in the mitochondrial ND6 gene. The mutation is heteroplasmic in all samples analyzed, and it fulfills all accepted criteria of pathogenicity. Transmitochondrial cell lines harboring 100% mutant mitochondrial DNA showed a marked decrease in the activity of complex I of the respiratory chain supporting the pathogenic role of T14487C.
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Research Interests: Regeneration, Carbon, Anatomy, Mice, Animals, and 3 moreMale, Medical Physiology, and Tissue distribution
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Research Interests: Skeletal muscle biology, Immunohistochemistry, Western blotting, Mice, Animals, and 13 moreP-glycoprotein, Temporal Correlation, Post-Transcriptional Gene Regulation, Duchenne Muscular Dystrophy, Clinical Sciences, mRna expression levels, Skeletal Muscle, Necrosis, Age Factors, Life Span, Neurosciences, Utrophin, and Matrix Metalloproteinase
Mdx mice show a milder phenotype than Duchenne patients despite bearing an analogous genetic defect. Our aim was to sort out genes, differentially expressed during the evolution of skeletal muscle mdx mouse disease, to elucidate the... more
Mdx mice show a milder phenotype than Duchenne patients despite bearing an analogous genetic defect. Our aim was to sort out genes, differentially expressed during the evolution of skeletal muscle mdx mouse disease, to elucidate the mechanisms by which these animals ...