Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation

Neurology

Volumn 74, Issue 23, 2010, Pages 1919-1921

  Boaretto, F ^a   Vettori, A ^a   Casarin, A ^a,b   Vazza, G ^a   Muglia, M ^c   Rossetto, M G ^d   Cavallaro, T ^e   Rizzuto, N ^e   Carelli, V ^f   Salviati, L ^b   Mostacciuolo, M L ^a   Martinuzzi, A ^d  

^a Clinical Genetics Unit   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^d SCIENTIFIC INSTITUTE   (Italy)

^e UNIVERSITY OF VERONA   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOFUSIN 2; THIAMINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CHARCOT MARIE TOOTH TYPE 2; CHOREA; CLINICAL FEATURE; COMA; CONSCIOUSNESS DISORDER; DISEASE ASSOCIATION; DISEASE COURSE; DYSAUTONOMIA; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; POLYNEUROPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; VITAMIN SUPPLEMENTATION; VOMITING; WILD TYPE;

BRAIN DISEASES; CHARCOT-MARIE-TOOTH DISEASE; FAMILY HEALTH; FEMALE; HUMANS; INTRONS; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; RNA SPLICING;

EID: 77953349923     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181e240f9     Document Type: Article

References (7)

1. Nicholson GA, Magdelaine C, Zhu D, et al. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 2008;70:1678-1681.
2. Züchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol 2006;2:45-53.
3. Del Bo R, Moggio M, Rango M, et al. Mutated mitofusin 2 presents with intrafamilial variability and brain mito-chondrial dysfunction. Neurology 2008;71:1959-1966.
4. Brockmann K, Dreha-Kulaczewski S, Dechent P, et al. Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. J Neurol 2008; 255:1049-1058.
5. Sechi GP, Serra A. Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management. Lancet Neurol 2007;6:442-455.
6. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006;129:2103-2118.
7. Lawson VH, Graham BV, Flanigan KM. Clinical and elec-trophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005;65:197-204.