X‐linked Charcot‐Marie‐Tooth type 1: stroke‐like presentation of a novel GJB1 mutation. Issue 2 (June 2014)

• Record Type: Journal Article
• Authors: Sagnelli, Anna; Piscosquito, Giuseppe; Chiapparini, Luisa; Ciano, Claudia; Salsano, Ettore; Saveri, Paola; Milani, Micaela; Taroni, Franco; Pareyson, Davide
• Is Part Of: Journal of the peripheral nervous system. Volume 19:Issue 2(2014)
• Page Start: 183
• Page End: 186
• Publication Date: 2014-06
• Subjects: Nervous system -- Periodicals; Nerves, Peripheral -- Diseases -- Periodicals; Peripheral Nervous System Diseases -- Periodicals; Peripheral Nervous System -- Periodicals; 612.81
• DOI: 10.1111/jns5.12070
• Languages: English
• ISSNs: 1085-9489

Abstract

<abstract abstract-type="main" id="jns512070-abs-0001"> <title>Abstract</title> <p id="jns512070-para-0001">X‐linked Charcot‐Marie‐Tooth type 1 (CMTX1) is the second most common type of CMT and is caused by mutations in the Gap‐Junction Beta‐1 gene (<italic>GJB1</italic>), encoding connexin 32 which is expressed in Schwann cells as well as in oligodendrocytes. More than 400 <italic>GJB1</italic> mutations have been described to date. Many mutation‐carrier males have subclinical central nervous system (CNS) involvement, a few show mild CNS clinical signs, whereas only rarely overt though transient CNS dysfunction occurs. We report a 29‐year‐old man with CMTX1 who, at 16 years, showed short‐lived CNS symptoms with transitory white matter abnormalities on cerebral magnetic resonance imaging (MRI) as first clinical presentation of a novel <italic>GJB1</italic> mutation (p.Gln99_His100insGln). He had three consecutive episodes of right hemiparesis, together with sensory loss in the paretic limbs and expressive aphasia, all lasting a few hours, over a 2‐day period, with concurrent white matter hyperintensity on MRI. These "stroke‐like" episodes occurred just after arriving at sea level, after travelling from home at 700 m of altitude. Only a few years later did symptoms of peripheral neuropathy appear. In conclusion, CMTX1 should be included in the differential diagnosis of diseases characterized by transient CNS symptoms and white matter abnormalities on MRI.</p> </abstract>