Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

Journal of Neurology Neurosurgery and Psychiatry

Volumn 66, Issue 2, 1999, Pages 222-224

  Klockgether, Thomas ^a,d   Schöls, Ludger ^b   Abele, Michael ^a   Bürk, Katrin ^a   Topka, Helge ^a   Andres, Frank ^a   Amoiridis, Georgios ^b   Lüdtke, Rainer ^a   Riess, Olaf ^b   Laccone, Franco ^c   Dichgans, Johannes ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d UNIVERSITY OF BONN   (Germany)

Author keywords

Axonal neuropathy; CAG repeat mutation; Machado Joseph disease; Spinocerebellar ataxia

Indexed keywords

ADULT; ARTICLE; CEREBELLAR ATAXIA; CONTROLLED STUDY; DEMYELINATING DISEASE; DISEASE DURATION; FEMALE; GENE MUTATION; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; MOTOR NERVE; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; NERVE POTENTIAL; NEUROPATHY; ONSET AGE; PERIPHERAL NERVE; PERIPHERAL NERVE INJURY; PRIORITY JOURNAL; SENSORY NERVE; STATISTICAL ANALYSIS; TRINUCLEOTIDE REPEAT;

EID: 0032910198     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.66.2.222     Document Type: Article

References (12)

1. Mattila T, McCall A, Subramony SH, et al. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38:68-72.
2. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 1992;7: 193-203.
3. Bürk K, Abele M, Fetter M, et al. Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996;119:1497-505.
4. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-8.
5. 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;28:703-9.
6. Maciel P, Gaspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57:54-61.
7. Schöls L, Amoiridis G, Epplen JT, et al. Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation. J Neurol Neurosurg Psychiatry 1996;61:466-70.
8. Colding Jorgensen E, Sorensen SA, Hasholt L, et al. Electrophysiological findings in a Danish family with Machado-Joseph disease. Muscle Nerve 1996;19:743-50.
9. 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;120:2141-8.
10. Coutinho P, Guimaraes A, Pires MM, et al. The peripheral neuropathy in Machado-Joseph disease. Acta Neuropathol (Berl) 1986;71:119-24.
11. Taylor PK. Non-linear effects of age on nerve conduction in adults. J Neurol Sci 1984;66:223-34.
12. Klockgether T, Kramer B, Lüdtke R, et al. Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 1996;348:830.