Neuropathy as a presenting feature in fragile X‐associated tremor/ataxia syndrome | Zendy

Hagerman Randi J. | Zendy; Coffey Sarah M. | Zendy; Maselli Ricardo | Zendy; Soontarapornchai Kultida | Zendy; Brunberg James A. | Zendy; Leehey Maureen A. | Zendy; Zhang Lin | Zendy; Gane Louise W. | Zendy; FentonFarrell Grace | Zendy; Tassone Flora | Zendy; Hagerman Paul J. | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research