Probable multiple system atrophy in a German family

被引：45

作者：

Wüllner, U

Abele, M

Schmitz-Huebsch, T

Wilhelm, K

Benecke, R

Deuschl, G

Klockgether, T

机构：

[1] Univ Bonn UKB, Dept Neurol, D-53105 Bonn, Germany

[2] UKB, Dept Radiol, Bonn, Germany

[3] UKR, Dept Neurol, Rostock, Germany

[4] UKK, Dept Neurol, Kiel, Germany

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2004年 / 75卷 / 06期

关键词：

D O I：

10.1136/jnnp.2003.025155

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Multiple system atrophy (MSA) is a neurodegenerative disorder of unknown aetiology. A possible underlying genetic component has not yet been identified. A family is reported with phenotypic MSA and probable autosomal dominant inheritance. The patients presented initially with either parkinsonian or cerebellar signs, and developed severe autonomic failure and typical atrophy of the brain stem and cerebellum in the course of the disease.

引用

收藏

页码：924 / 925

页数：2

相关论文

共 13 条

[1] Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration [J].

Bandmann, O ;

Sweeney, MG ;

Daniel, SE ;

Wenning, GK ;

Quinn, N ;

Marsden, CD ;

Wood, NW .

NEUROLOGY, 1997, 49 (06) :1598-1604

[2]

Gilman S, 1998, J AUTONOM NERV SYST, V74, P189

[3] Alpha-synuclein and neurodegenerative diseases [J].

Goedert, M .

NATURE REVIEWS NEUROSCIENCE, 2001, 2 (07) :492-501

[4] A NOVEL CYTOCHROME P-450IID6 (CYPIID6) MUTANT-GENE ASSOCIATED WITH MULTIPLE SYSTEM ATROPHY [J].

IWAHASHI, K ;

MIYATAKE, R ;

TSUNEOKA, Y ;

MATSUO, Y ;

ICHIKAWA, Y ;

HOSOKAWA, K ;

SATO, K ;

HAYABARA, T .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1995, 58 (02) :263-264

[5] FAMILIAL ORTHOSTATIC HYPOTENSION [J].

LEWIS, P .

BRAIN, 1964, 87 :719-+

[6] Multiple system atrophy/progressive supranuclear palsy:: α-Synuclein, synphilin, tau, and APOE [J].

Morris, HR ;

Vaughan, JR ;

Datta, SR ;

Bandopadhyay, R ;

de Silva, HAR ;

Schrag, A ;

Cairns, NJ ;

Burn, D ;

Nath, U ;

Lantos, PL ;

Daniel, S ;

Lees, AJ ;

Quinn, NP ;

Wood, NW .

NEUROLOGY, 2000, 55 (12) :1918-1920

[7]

Nee L E, 1991, Clin Auton Res, V1, P9, DOI 10.1007/BF01826052

[8] No mutation in the entire coding region of the α-synuclein gene in pathologically confirmed cases of multiple system atrophy [J].

Ozawa, T ;

Takano, H ;

Onodera, O ;

Kobayashi, H ;

Ikeuchi, T ;

Koide, R ;

Okuizumi, K ;

Shimohata, T ;

Wakabayashi, K ;

Takahashi, H ;

Tsuji, S .

NEUROSCIENCE LETTERS, 1999, 270 (02) :110-112

[9] Genetic background of apparently idiopathic sporadic cerebellar ataxia [J].

Schöls, L ;

Szymanski, S ;

Peters, S ;

Przuntek, H ;

Epplen, JT ;

Hardt, C ;

Riess, O .

HUMAN GENETICS, 2000, 107 (02) :132-137

[10] Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study [J].

Schrag, A ;

Ben-Shlomo, Y ;

Quinn, NP .

LANCET, 1999, 354 (9192) :1771-1775