An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant.

We report a case of AOAD, with onset in the eighth decade, presenting with slow variant orthostatic tremor, which has not been previously described. Genetic analysis revealed a GFAP variant (c.1158C>A) that has not been previously reported. Our case serves to expand the diagnostic spectrum of AOAD both clinically and genetically. PMID: 30755139 [PubMed - as supplied by publisher]
Source: Neurocase - Category: Neurology Authors: Tags: Neurocase Source Type: research

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Abstract Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases. Central to this are leukodystrophies, a group of progressive, neurogenetic disease affecting white matter pathology. In this review, we take a closer look at multiple leukodystrophies, classified based on the primary glial cell type that is affected. While white matter diseases involve oligodendrocyte and myelin loss, we discuss how astrocytes and microglia are affected and impinge on oligodendrocyte, myelin and axonal pathol...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Publication date: Available online 13 September 2020Source: Stem Cell ResearchAuthor(s): Kee-Pyo Kim, Juyong Yoon, Johnny Kim, Albrecht Röpke, Borami Shin, Dong Wook Han, Boris Greber, Hans R. Schöler
Source: Stem Cell Research - Category: Stem Cells Source Type: research
We describe a case of a 7-year-old girl with long term medically unexplained symptoms and suspicion of a psychiatric disorder, who was diagnosed with Alexander disease. Building on this case, a literature search was conducted for psychiatric symptoms.. PMID: 32910452 [PubMed - in process]
Source: Tijdschrift voor Psychiatrie - Category: Psychiatry Authors: Tags: Tijdschr Psychiatr Source Type: research
Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to d...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene expression, and neural development. Duplication of LMNB1, or missense mutations increasing LMNB1 expression, are associated with autosomal-dominant leukodystrophy. On the basis of its role in neurogenesis, it has been postulated that LMNB1 variants could cause microcephaly. Here, we confirm this hypothesis with the identification of de novo mutations in LMNB1 in seven individuals with pronounced primary microcephaly (ranging from −3.6 to −12 SD) associated with relative short stature and variable degree of intellectual di...
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research
In this study, the clinical course was evaluated over the first 24 months following HSCT, conducted at our center in 12 children with juvenile MLD (mean follow-up 6.75 years, range 3 –13.5) and compared with 35 non-transplanted children with juvenile MLD. Motor function (GMFM-88 and GMFC-MLD), cognitive function (FSIQ), peripheral neuropathy (tibial nerve conduction velocity), and cerebral changes (MLD-MR severity score) were tested prospectively.Seven children remained neurologically stable over a long period, five exhibited rapid disease progression over the first 12 to 18 months after transplantation. In the latte...
Source: Molecular and Cellular Pediatrics - Category: Cytology Source Type: research
ConclusionOur results identified a pathogenic mutation,ARSA homozygosity c.925G>A, from a Chinese MLD family. The pathogenic mechanism of theARSA mutation in MLD was identified, which may suggest new approaches to diagnosis and treatment.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
We report what is likely the first pediatric case of MLD with gallbladder cancer.
Source: Brain and Development - Category: Neurology Authors: Tags: Case Report Source Type: research
Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable neurodegenerative disease caused by deficient activity of the hydrolytic enzyme galactosylceramidase (GALC). The ensuing cytotoxic accumulation of psychosine results in diffuse central and peripheral nervous system (CNS, PNS) demyelination. Presymptomatic hematopoietic stem cell transplantation (HSCT) is the only treatment for infantile-onset GLD; however, clinical outcomes of HSCT recipients often remain poor, and procedure-related morbidity is high. There are no effective therapies for symptomatic patients. Herein, we demonstrate in the natural...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
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