[Hereditary motor and sensory neuropathies. Clinical and molecular genetic aspects].
Hereditary motor sensory neuropathies are a heterogeneous group of inherited diseases of the peripheral nerves. In this review the clinical and genetic differences between the sub-groups of this disease will be discussed. Since the discovery of a 1.5 mb duplication on chromosome 17 p11.2-12 in most patients with a hereditary motor sensory neuropathy and a variety of different mutations on chromosomes 1 and X in other patients with a similar disease profile, Dycks' clinical classification needs to be re-evaluated. In this review Dycks' taxonomy of heridihary neuropathies will be compared to a new genetic classification and a relevant diagnostic procedure proposed when a hereditary neuropathy is suspected.
Lechner-Scott
J S
JS
Neurologische Universitätsklinik, Kantonsspital, Basel.
Scott
R J
RJ
Steck
A J
AJ
Kappos
L
L
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D003937:Diagnosis, Differential; D015417:Hereditary Sensory and Motor Neuropathy / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D010525:Peripheral Nerves / Q000503:physiopathology; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
Hereditäre motorisch-sensible Neuropathien. Klinische und molekulargenetische Aspekte.