Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0155339 (Brown)
 12,436 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fasciculations and fasciculation potentials (FPs) have been long known as a characteristic feature of amyotrophic lateral sclerosis (ALS). In this article, the history of the researches on fasciculation and FPs is first reviewed. The word and concept of fasciculation was first properly defined by Denny-Brown and Pennybacker (1938). It is noteworthy that they already stressed the necessity of strict discrimination of FPs from the "contraction fasciculation", a remnant of large voluntary motor unit potentials (MUPs), in this early milestone paper. FPs are rarely observed in neurogenic diseases other than ALS or disorders presenting with conduction block, i. e. they retain a high specificity in ALS diagnosis. Despite such usefulness, FPs were devaluated in the revised El-Escorial criteria. It is welcome that their value has been restored in the newer Awaji criteria. In the actual practice, correct identification of FPs would be a critical point. Remnant of voluntary MUPs is the greatest FP mimic to be differentiated. The key point for differentiation is the firing rhythm. FPs are characterized by a low-frequency and quite irregular firing, showing clustering of discharges. In contrast, voluntary MUPs are characterized by a semiregular firing.
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PMID:[Fasciculation potential and ALS diagnosis]. 2567 13

Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. As RTD probably has a larger phenotypic spectrum than expected, a high dose riboflavin trial should be discussed in young-onset MND.
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PMID:A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. 3202 82

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis-like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3 were found in 7 probands. More importantly, only 1 mutated allele was observed in several patients, and variable expressivity and incomplete penetrance were clearly noted. Environmental insults may contribute to variable presentations. Putative causative mutations in other genes were identified in 3 probands. Two of the genes, WDFY4 and TNFSF13B, have immune-related functions. Inflammatory responses were implicated in the patient with the WDFY4 mutation. Malfunction of the immune system and mitochondrial anomalies were shown in the patient with the TNFSF13B mutation. Prevalence of heterozygous SLC52A3 BVVL causative mutations and notable variability in expressivity of homozygous and heterozygous genotypes are being reported for the first time. Identification of WDFY4 and TNFSF13B as candidate causative genes supports conjectures on involvement of the immune system in BVVL and amyotrophic lateral sclerosis.
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PMID:BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. 3318 4


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