(mentions CMT) Neuropathy as a presenting feature in fragile X-associated tremor

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Am J Med Genet A. 2007 Aug 28

Neuropathy as a presenting feature in fragile X-associated

tremor/ataxia syndrome.

Hagerman RJ, Coffey SM, Maselli R, Soontarapornchai K, Brunberg JA,

Leehey MA, Zhang L, Gane LW, Fenton-Farrell G, Tassone F, Hagerman

PJ.

Department of Pediatrics, University of California at Medical

Center, Sacramento, California.

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.