منابع مشابه
Inherited neuropathies.
OPINION STATEMENT Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the most common inherited neuropathy. In the past several years, various treatments for CMT have been proposed, although specific therap...
متن کاملInherited mitochondrial optic neuropathies
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in significant visual morbidity among young adults. Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families ha...
متن کاملInherited peripheral neuropathies.
Mutations in genes expressed in Schwann cells and the axons they ensheathe cause the hereditary motor and sensory neuropathies, also known as Charcot-Marie-Tooth disease (CMT). More than 40 different genes have been shown to cause inherited neuropathies; chromosomal localizations of many other distinct inherited neuropathies have been mapped, and new genetic causes for inherited neuropathies co...
متن کاملMolecular mechanisms of inherited demyelinating neuropathies.
The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the h...
متن کاملFinding the causes of inherited neuropathies.
T he genetic causes of inherited neuropathies and their classification are the topics of this review. The large number of disorders as well as cumbersome and even inconsistent nomenclature make this a daunting task. Owing to limited space, I will not elaborate on the clinical features or diagnostic approaches of these disorders, and the primary literature is not referenced; these topics are mor...
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ژورنال
عنوان ژورنال: Seminars in Neurology
سال: 2012
ISSN: 0271-8235,1098-9021
DOI: 10.1055/s-0032-1329198