ObjectiveNeurodegeneration with brain iron accumulation (NBIA) is a group of disorders characteri... more ObjectiveNeurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2).MethodsWe completed a mutation screen in 72 patients with the diagnosis NBIA based on clinical findings and radiological imaging. The entire coding region of the PANK2 gene (20p12.3) was investigated for point mutations and deletions.ResultsWe uncovered both mutant alleles in 48 patients. Deletions accounted for 4% of mutated alleles. Patients with two loss‐of‐function alleles (n = 11) displayed symptoms always at an early stage of life. In the presence of missense mutations (n = 37), the age of onset correlated with residual activity of the pantothenate kinase. Progression of disease measured by loss of ambulation was variable in both groups. We did not observe a strict correlation between...
Zeitschrift f�r Zellforschung und Mikroskopische Anatomie, 1973
SummaryA light and electron microscopic autoradiographic analysis revealed that H3-valine infused... more SummaryA light and electron microscopic autoradiographic analysis revealed that H3-valine infused into the lateral ventricle of normal and acutely dehydrated cats is preferentially taken up by the supraoptic (SON) and paraventricular nucleus (PVN) of the hypothalamus. Grain counts for these magnocellular neurons in normal unstressed cats were highest at one hour post infusion with a significant fall off by three hours. Uptake by the SON and PVN at one hour exceeded neighboring nuclear groups by a factor of 7 and 4 fold respectively. Electron microscopic autoradiographs from acutely dehydrated cats revealed the presence of emission grains in association with rough endoplasmic reticulum and large osmiophilic neurosecretory vesicles. In view of statistically significant uptake values and rapid turnover of H3-valine by SON and PVN in normal animals, coupled with emission tracks in direct association with underlying neurosecretory product in acutely dehydrated ones, it is speculated that valine may be an amino acid component of one or both of the neurophysins to which neurohypophyseal hormones are non-covalently linked.
... Ferner degenerieren dopaminerge Neurone der ventralen tegmentalen Area von Tsai, die zu zahlr... more ... Ferner degenerieren dopaminerge Neurone der ventralen tegmentalen Area von Tsai, die zu zahlreichen kortikalen Regionen projizieren. ... ärer Form 15%), ferner sporadisches A uftre ten, iatrogene Übertragung so wie V ariante CJD Demenz mit raschem Beg inn und V ...
ObjectiveNeurodegeneration with brain iron accumulation (NBIA) is a group of disorders characteri... more ObjectiveNeurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2).MethodsWe completed a mutation screen in 72 patients with the diagnosis NBIA based on clinical findings and radiological imaging. The entire coding region of the PANK2 gene (20p12.3) was investigated for point mutations and deletions.ResultsWe uncovered both mutant alleles in 48 patients. Deletions accounted for 4% of mutated alleles. Patients with two loss‐of‐function alleles (n = 11) displayed symptoms always at an early stage of life. In the presence of missense mutations (n = 37), the age of onset correlated with residual activity of the pantothenate kinase. Progression of disease measured by loss of ambulation was variable in both groups. We did not observe a strict correlation between...
Zeitschrift f�r Zellforschung und Mikroskopische Anatomie, 1973
SummaryA light and electron microscopic autoradiographic analysis revealed that H3-valine infused... more SummaryA light and electron microscopic autoradiographic analysis revealed that H3-valine infused into the lateral ventricle of normal and acutely dehydrated cats is preferentially taken up by the supraoptic (SON) and paraventricular nucleus (PVN) of the hypothalamus. Grain counts for these magnocellular neurons in normal unstressed cats were highest at one hour post infusion with a significant fall off by three hours. Uptake by the SON and PVN at one hour exceeded neighboring nuclear groups by a factor of 7 and 4 fold respectively. Electron microscopic autoradiographs from acutely dehydrated cats revealed the presence of emission grains in association with rough endoplasmic reticulum and large osmiophilic neurosecretory vesicles. In view of statistically significant uptake values and rapid turnover of H3-valine by SON and PVN in normal animals, coupled with emission tracks in direct association with underlying neurosecretory product in acutely dehydrated ones, it is speculated that valine may be an amino acid component of one or both of the neurophysins to which neurohypophyseal hormones are non-covalently linked.
... Ferner degenerieren dopaminerge Neurone der ventralen tegmentalen Area von Tsai, die zu zahlr... more ... Ferner degenerieren dopaminerge Neurone der ventralen tegmentalen Area von Tsai, die zu zahlreichen kortikalen Regionen projizieren. ... ärer Form 15%), ferner sporadisches A uftre ten, iatrogene Übertragung so wie V ariante CJD Demenz mit raschem Beg inn und V ...
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