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Neuropathy as a presenting feature in fragile X‐associated tremor/ataxia syndrome
Author(s) -
Hagerman Randi J.,
Coffey Sarah M.,
Maselli Ricardo,
Soontarapornchai Kultida,
Brunberg James A.,
Leehey Maureen A.,
Zhang Lin,
Gane Louise W.,
FentonFarrell Grace,
Tassone Flora,
Hagerman Paul J.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31920
Subject(s) - ataxia , peripheral neuropathy , lamin , medicine , feature (linguistics) , endocrinology , psychiatry , linguistics , philosophy , nucleus , diabetes mellitus
Peripheral neuropathy is common among patients with fragile X‐associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot‐Marie‐Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between FXTAS and neuropathy has been suggested by the presence of lamin A/C in the intranuclear, neuronal and astrocytic inclusions of FXTAS, since mutations in lamin A/C are known to give rise to an axonal form of CMT. © 2007 Wiley‐Liss, Inc.