Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of amyotrophic lateral sclerosis (ALS) is mainly based on clinical and electrophysiological features. It is yet to be confirmed if cystatin C (Cys-C) can be a candidate diagnostic biomarker for ALS. This retrospective study aimed at investigating the changes in the level of Cys-C levels in the cerebrospinal fluid (CSF) of Chinese patients with ALS. CSF and serum samples obtained from patients with ALS, healthy controls (HC) and neurodegenerative disease controls from March 2012 to May 2014 were analyzed for levels of Cys-C using an immunoturbidimetric assay. The results were checked for the presence of meaningful correlations between Cys-C levels and variables such as the age of onset, site of symptoms onset, disease duration, and amyotrophic lateral sclerosis functional rating scale revised (ALSFRS-R) score, forced vital capacity (FVC) and rate of ALS disease progression. There was no difference in the Cys-C levels in CSF and serum between patients with ALS and controls. However, the serum Cys-C levels correlated with the ALSFRS-R score and the site of symptoms onset. The statistical analysis exhibited reduced levels of serum Cys-C in Upper limb-onset ALS (U-ALS) compared to Lower limb-onset ALS (L-ALS). The present data demonstrate that the level of Cys-C in CSF should not be considered as a biomarker of ALS. Cys-C in serum may be useful as an indicator of the severity of disease and site of symptoms onset although the specificity of serum Cys-C levels in ALS was not significant.
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PMID:Measurement of cystatin C levels in the cerebrospinal fluid of patients with amyotrophic lateral sclerosis. 2619 Dec 45

Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' untranslated region (UTR). This study also identified a de novo c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in NEFH from a CMT2 family with an atypical clinical symptom of prominent proximal weakness. This mutation is located near the previously reported frameshift mutations, suggesting a mutational hotspot. Lower limb magnetic resonance imaging (MRI) revealed marked hyperintense signal changes in the thigh muscles compared with those in the calf muscles. Therefore, this study suggests that the stop loss and translational elongations by the 3' UTR of the NEFH mutations may be a relatively frequent genetic cause of axonal peripheral neuropathy with the specific characteristics of proximal dominant weakness.
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PMID:Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH. 2854 63

Exercise for patients with amyotrophic lateral sclerosis (ALS) can be expected to improve function at the early stage of disease, but improvement cannot be expected at the late stage. However, no report has investigated the correlation between the effect of exercise and time since onset. This study examined the relevance between the effect of muscle strengthening exercise and time since onset in patients with ALS.This study is a retrospective nonconsecutive case series study at a single university hospital. We included 2 patients with ALS who were admitted twice. Case 1 was a 60-year-old man with the bulbar type. He was hospitalized 10 months (ALS functional rating scale-revised, 42 points) and 1 year and 8 months (33 points) after onset. Case 2 was a 52-year-old man with the lower limb type. He was hospitalized 1 year and 3 months (44 points) and 1 year and 8 months (33 points) after onset. Physical therapy was implemented daily on weekdays for approximately 30 minutes. The intervention period was 2 weeks. Lower limb muscle strengthening exercises were mainly performed and exercise intensity was adjusted to a modified Borg Scale score of 5 (lower limbs). The study investigated knee extension muscle strength (KEMS) by using a hand-held dynamometer and Functional Ambulation Categories (FAC) at the start and end of physical therapy during each hospitalization.KEMS improved during the initial hospitalization in both patients, and FAC improved in Case 2; neither KEMS nor FAC improved during rehospitalization in either patient. In Case 1, KEMS was maintained for 10 months.The current results suggest that the positive effect of muscle strengthening exercise is greater at the early stage and may be maintained in patients with bulbar type ALS. In addition, improvement can be achieved approximately 1 year after onset and in patients with an ALSFRS-R score of 40 points or more. Therefore, it is necessary to initiate and continue exercise earlier after onset.
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PMID:Effect of muscle strengthening exercise and time since onset in patients with amyotrophic lateral sclerosis: A 2-patient case series study. 2992 18