Machado-Joseph disease presenting as severe generalised dystonia in a German patient

被引：19

作者：

Münchau, A

Dressler, D

Bhatia, KP

Vogel, P

Zühlke, C

机构：

[1] Inst Neurol, London WC1N 3BG, England

[2] Allgemeines Krankenhaus St Georg, Neurol Abt, D-20099 Hamburg, Germany

[3] Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

来源：

JOURNAL OF NEUROLOGY | 1999年 / 246卷 / 09期

关键词：

D O I：

10.1007/s004150050465

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：840 / 842

页数：3

共 16 条

[1]

COUTINHO P, 1976, NEUROLOGY, V26, P703

[2] Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease [J].

Higgins, JJ ;

Nee, LE ;

Vasconcelos, O ;

Ide, SE ;

Lavedan, C ;

Goldfarb, LG ;

Polymeropoulos, MH .

NEUROLOGY, 1996, 46 (01) :208-213

[3] CAG EXPANSIONS IN A NOVEL GENE FOR MACHADO-JOSEPH DISEASE AT CHROMOSOME 14Q32.1 [J].

KAWAGUCHI, Y ;

OKAMOTO, T ;

TANIWAKI, M ;

AIZAWA, M ;

INOUE, M ;

KATAYAMA, S ;

KAWAKAMI, H ;

NAKAMURA, S ;

NISHIMURA, M ;

AKIGUCHI, I ;

KIMURA, J ;

NARUMIYA, S ;

KAKIZUKA, A .

NATURE GENETICS, 1994, 8 (03) :221-228

[4] HOMOZYGOUS INHERITANCE OF THE MACHADO-JOSEPH DISEASE GENE [J].

LANG, AE ;

ROGAEVA, EA ;

TSUDA, T ;

HUTTERER, J ;

STGEORGEHYSLOP, P .

ANNALS OF NEUROLOGY, 1994, 36 (03) :443-447

[5] CLINICAL-CRITERIA FOR DIAGNOSIS OF MACHADO-JOSEPH DISEASE - REPORT OF A NON-AZOREAN PORTUGUESE FAMILY [J].

LIMA, L ;

COUTINHO, P .

NEUROLOGY, 1980, 30 (03) :319-322

[6] MOLECULAR-FEATURES OF THE CAG REPEATS AND CLINICAL MANIFESTATION OF MACHADO-JOSEPH DISEASE [J].

MARUYAMA, H ;

NAKAMURA, S ;

MATSUYAMA, Z ;

SAKAI, T ;

DOYU, M ;

SOBUE, G ;

SETO, M ;

TSUJIHATA, M ;

OHI, T ;

NISHIO, T ;

SUNOHARA, N ;

TAKAHASHI, R ;

HAYASHI, M ;

NISHINO, I ;

OHTAKE, T ;

ODA, T ;

NISHIMURA, M ;

SAIDA, T ;

MATSUMOTO, H ;

BABA, M ;

KAWAGUCHI, Y ;

KAKIZUKA, A ;

KAWAKAMI, H .

HUMAN MOLECULAR GENETICS, 1995, 4 (05) :807-812

[7] MACHADO DISEASE - HEREDITARY ATAXIA IN PORTUGUESE EMIGRANTS TO MASSACHUSETTS [J].

NAKANO, KK ;

SPENCE, A ;

DAWSON, DM .

NEUROLOGY, 1972, 22 (01) :49-&

[8] MACHADO-JOSEPH DISEASE - AN AUTOSOMAL DOMINANT MOTOR SYSTEM DEGENERATION [J].

ROSENBERG, RN .

MOVEMENT DISORDERS, 1992, 7 (03) :193-203

[9] Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation [J].

Schols, L ;

Amoiridis, G ;

Epplen, JT ;

Langkafel, M ;

Przuntek, H ;

Riess, O .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1996, 61 (05) :466-470

[10] MATHADO-JOSEPH DISEASE MUTATIONS AS THE GENETIC-BASIS OF MOST SPINOCEREBELLAR ATAXIAS IN GERMANY [J].

SCHOLS, L ;

AMOIRIDIS, G ;

LANGKAFEL, M ;

BUTTNER, T ;

PRZUNTEK, H ;

RIESS, O ;

VIEIRASAECKER, AMM ;

EPPLEN, JT .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1995, 59 (04) :449-450

← 1 2 →