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)

Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders currently associated with 27 genes. The most frequent types are caused by expansions in coding CAG repeats. The frequency of SCA subtypes varies among populations. We examined the occurrence of rare SCAs, SCA8, SCA12, SCA17 and dentatorubro-pallidoluysian atrophy (DRPLA), in the Czech population from where the data were missing. We analyzed causal gene expansions in 515 familial and sporadic ataxic patients negatively tested for SCA1-3 and SCA6-7. Pathogenic SCA8 and SCA17 expansions were identified in eight and five patients, respectively. Tay-Sachs disease was later diagnosed in one patient with an SCA8 expansion and the diagnosis of multiple sclerosis (MS) was suspected in two other patients with SCA8 expansions. These findings are probably coincidental, although the participation of SCA8 expansions in the susceptibility to MS and disease progression cannot be fully excluded. None of the patients had pathogenic SCA12 or DRPLA expansions. However, three patients had intermediate SCA12 alleles out of the normal range with 36 and 43 CAGs. Amyotrophic lateral sclerosis (ALS) was probable in the patient with 43 CAGs. This coincidence is remarkable, especially in the context with the recently identified predisposing role of longer SCA2 alleles in ALS. Five families with SCA17 represent a significant portion of ataxic patients and this should be reflected in the diagnostics of SCAs in the Czech population. SCA8 expansions must be considered after careful clinical evaluation.
Cerebellum 2013 Apr
PMID:Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients. 2287 68

Nerve excitability studies have emerged as a recent novel non-invasive technique that offers complementary information to that provided by more conventional nerve conduction studies, the latter which provide only limited indices of peripheral nerve function. Such novel tools allow for the assessment of peripheral axonal biophysical properties that include ion channels, energy-dependent pumps and membrane potential in health and disease. With improvements in technique and development of protocols, a typical study can be completed in a short period of time and rapid measurement of multiple excitability indices can be achieved that provide insight into different aspects of peripheral nerve function. The advent of automated protocols for the assessment of nerve excitability has promoted their use in previous studies investigating disease pathophysiology such as in metabolic, toxic and demyelinating neuropathies, amyotrophic lateral sclerosis, stroke, spinal cord injury and inherited channelopathies. In more recent years, the use of nerve excitability studies have additionally provided insights into the pathophysiological mechanisms underlying cerebellar disorders that include stroke and familial cerebellar ataxias such as episodic ataxia types 1 and 2. Moreover, this technique may have diagnostic and therapeutic implications that may encompass a broader range of neurodegenerative cerebellar ataxias in years to come. In the foreseeable future, this technique may eventually be incorporated into clinical practice expanding the currently available armamentarium to the neurophysiologist.
Cerebellum Ataxias 2015
PMID:Peripheral nerve axonal excitability studies: expanding the neurophysiologist's armamentarium. 2633 Oct 47

Spinocerebellar ataxia type 3 (SCA3), the most common subtype of SCA worldwide, is caused by mutation of CAG repeats expansion in ATXN3. Body mass index (BMI) is an important modulatory factor in the progression of neurodegenerative disorders such as Huntington disease and amyotrophic lateral sclerosis. However, its relevance in SCA3 is not well understood. In this study, BMI was investigated in 134 molecularly confirmed SCA3 patients and 136 healthy controls from China. The multivariable linear regression models were performed to establish the putative risk factors for BMI, and whether BMI could affect the severity of ataxia. We found that BMI was significantly lower in the case group than that in the control group. The age at onset (positive correlation) and severity of ataxia (negative correlation) were the risk factors affecting BMI. Conversely, BMI along with the disease duration, the age at onset, and the numbers of CAG repeats could also have influence on the severity of ataxia. In conclusion, SCA3 patients had lower BMI than matched controls and BMI is a predictor of disease progression in SCA3. Nutritional intervention to promote weight gain could be a promising strategy to impede SCA3 progression.
Cerebellum 2018 Aug
PMID:Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients. 2947 41