title: Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
abstract: In this study, we report a novel connexin 32 (CX32) mutation associated with cognitive impairment and a differential degree of peripheral nerve involvement. We present clinical, electrophysiological, and neuroimaging data on a family with X-linked Charcot-Marie-Tooth disease caused by a 41A>G mutation of the gap junction protein beta 1 (GJB1) gene. The proband and her sister presented with a severe neuropathy with subclinical cognitive impairment; the proband's brother showed severe cognitive impairment and a mild neuropathy. This family report confirms that Charcot-Marie-Tooth type X is a clinically heterogeneous group, with great variability of phenotypes, possible severe involvement in females and clinical signs of cognitive impairment. Thus, this novel mutation should be added to the group of CX32 mutations with a central nervous system phenotype.
authors.affiliation: Department of Neurosciences, Psychiatry and Anesthesiology, AOU "G. Martino", Messina, Italy. claudia.stancanelli@yahoo.it
authors.forename: Claudia
authors.initials: C
authors.lastname: Stancanelli
authors.forename: Federica
authors.initials: F
authors.lastname: Taioli
authors.forename: Silvia
authors.initials: S
authors.lastname: Testi
authors.forename: Gian Maria
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Arena
authors.forename: Francesca
authors.initials: F
authors.lastname: Granata
authors.forename: Massimo
authors.initials: M
authors.lastname: Russo
authors.forename: Luca
authors.initials: L
authors.lastname: Gentile
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.forename: Anna
authors.initials: A
authors.lastname: Mazzeo
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D002490:Central Nervous System / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D002851:Chromatography, High Pressure Liquid; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005190:Family; D005260:Female; D006801:Humans; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology; D009154:Mutation / Q000502:physiology*; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein