SCA3 presenting as an isolated axonal polyneuropathy

Archives of Neurology

Volumn 68, Issue 5, 2011, Pages 653-655

  Graves, Tracey D ^a   Guiloff, Roberto J ^a  

^a CHARING CROSS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AREFLEXIA; ARTICLE; AXONAL SENSORIMOTOR POLYNEUROPATHY; BRAIN ATROPHY; CAG REPEAT; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEMYELINATION; ELECTROPHYSIOLOGY; FASCICULATION; FOLLOW UP; GENETIC ANALYSIS; HUMAN; LIMB WEAKNESS; MACHADO JOSEPH DISEASE; MALE; NERVE BIOPSY; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; REMYELINIZATION; SENSORIMOTOR NEUROPATHY; SURAL NERVE;

AXONS; DIAGNOSIS, DIFFERENTIAL; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYNEUROPATHIES; REPRESSOR PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 79955760834     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.86     Document Type: Article

References (15)

1. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology. 1978;28(7):703-709.
2. Notermans NC, Wokke JH, van der Graaf Y, Franssen H, van Dijk GW, Jennekens FG. Chronic idiopathic axonal polyneuropathy: a five-year follow-up. J Neurol Neurosurg Psychiatry. 1994;57(12):1525-1527.
3. Lau KK, Lam K, Shiu KL, et al. Clinical features of hereditary spinocerebellar ataxia diagnosed by molecular genetic analysis. Hong Kong Med J. 2004;10(4):255-259.
4. van de Warrenburg BP, Notermans NC, Schelhaas HJ, et al. Peripheral nerve involvement in spinocerebellar ataxias. Arch Neurol. 2004;61(2):257-261.
5. Abele M, Bürk K, Andres F, et al. Autosomal dominant cerebellar ataxia type I: nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain. 1997;120(pt 12):2141-2148.
6. Lin KP, Soong BW. Peripheral neuropathy of Machado-Joseph disease in Taiwan: a morphometric and genetic study. Eur Neurol. 2002;48(4):210-217.
7. Kubis N, Dürr A, Gugenheim M, et al. Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation. Muscle Nerve. 1999;22(6):712-717. (Pubitemid 29256839)
8. Klockgether T, Schöls L, Abele M, et al. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry. 1999;66(2):222-224. (Pubitemid 29103526)
9. Giunti P, Sweeney MG, Harding AE. Detection of the Machado-Joseph disease/ spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain. 1995;118(pt 5):1077-1085.
10. van Schaik IN, Jöbsis GJ, Vermeulen M, Keizers H, Bolhuis PA, de Visser M. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy. J Neurol Neurosurg Psychiatry. 1997;63(4):534-536. (Pubitemid 27423569)
11. van Alfen N, Sinke RJ, Zwarts MJ, et al. Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype. Ann Neurol. 2001;49(6):805-807.
12. Chakravarty A, Mukherjee SC. Autosomal dominant cerebellar ataxias in ethnic Bengalees in West Bengal - an Eastern Indian state. Acta Neurol Scand. 2002;105(3):202-208. (Pubitemid 34258962)
13. Colding-Jørgensen E, Sørensen SA, Hasholt L, Lauritzen M. Electrophysiological findings in a Danish family with Machado-Joseph disease. Muscle Nerve. 1996;19(6):743-750. (Pubitemid 26134585)
14. Kinoshita A, Hayashi M, Oda M, Tanabe H. Clinicopathological study of the peripheral nervous system in Machado-Joseph disease. J Neurol Sci. 1995;130(1):48-58.
15. Takiyama Y, Oyanagi S, Kawashima S, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology. 1994;44(7):1302-1308.