Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0848771 (neurological disability)
 928 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1973 Goldfischer et al reported that patients with the Zellweger cerebro-hepato-renal syndrome lacked demonstrable peroxisomes. This was the first time that a human disease state was attributed to a disorder of peroxisomes, subcellular organelles that had received little attention until that time. Interest in the organelle has increased rapidly during the last 10 years, both in respect to its cellular and molecular biology, and also in respect to its role in clinical medicine. Sixteen peroxisomal disorders have been identified at this time. They are pertinent to the neurologist because 12 of these disorders are associated with severe neurological disability. Furthermore, they are not infrequent: our laboratory has identified more than 3,000 patients. This presentation will provide basic information about peroxisome structure and function and then summarize the classification, diagnosis, genetics, pathogenesis, and therapy of the peroxisomal disorders.
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PMID:Peroxisomal disorders. 896 11

Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet received a molecular genetic diagnosis because clinical genetic testing usually only covers a subset of IPN genes. Moreover, a considerable proportion of IPN genes has to be identified. Here we present results of WES in 27 IPN patients excluded for mutations in many known IPN genes. Eight of the patients received a definite diagnosis. While six of these patients carried bona fide pathogenic mutations in known IPN genes, two patients had mutations in genes known to be involved in other types of neuromuscular disorders. A further group of eight patients carried sequence variations in IPN genes that could not unequivocally be classified as pathogenic. In addition, combining data of WES and linkage analysis identified SH3BP4, ITPR3, and KLHL13 as novel IPN candidate genes. Moreover, there was evidence that particular mutations in PEX12, a gene known to cause Zellweger syndrome, could also lead to an IPN phenotype. We show that WES is a useful tool for diagnosing IPN and we suggest an expanded phenotypic spectrum of some genes involved in other neuromuscular and neurodegenerative disorders. Nevertheless, interpretation of variants in known and potential novel disease genes has remained challenging.
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PMID:Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 2462 8