TARDBP Variation Associated with Frontotemporal Dementia, Supranuclear Gaze Palsy, and Chorea

被引：163

作者：

Kovacs, Gabor G. ^{[1
,2
,3
]}

Murrell, Jill R. ^{[1
]}

Horvath, Sandor ^{[4
]}

Haraszti, Laszlo ^{[5
]}

Majtenyi, Katalin ^{[3
]}

Molnar, Maria J. ^{[6
]}

Budka, Herbert ^{[2
]}

Ghetti, Bernardino ^{[1
]}

Spina, Salvatore ^{[1
,7
]}

机构：

[1] Indiana Univ, Sch Med, Dept Pathol & Lab Med, Indianapolis, IN 46202 USA

[2] Med Univ Vienna, Inst Neurol, Vienna, Austria

[3] Natl Inst Psychiat & Neurol, Budapest, Hungary

[4] Ferenc Flor Hosp, Dept Neurol, Kistarcsa, Hungary

[5] Ferenc Flor Hosp, Dept Psychiat, Kistarcsa, Hungary

[6] Semmelweis Univ, Clin & Res Ctr Mol Neurol, H-1085 Budapest, Hungary

[7] Univ Siena, Dept Neurol Neurosurg & Behav Sci, I-53100 Siena, Italy

来源：

MOVEMENT DISORDERS | 2009年 / 24卷 / 12期

关键词：

TDP-43; atypical dementia; amyotrophic lateral sclerosis; movement disorders; neuropathology; LOBAR DEGENERATION; TDP-43; PROGRANULIN; MUTATIONS; INCLUSIONS;

D O I：

10.1002/mds.22697

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

TDP-43 has been identified as the pathological protein in the majority of cases of frontotemporal lobar degeneration and amyotrophic lateral sclerosis (ALS). TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. We describe clinicopathological and genetic findings in a carrier of the novel K263E TARDBP variation, who developed frontotemporal dementia, supranuclear palsy, and chorea, but no signs of motor neuron disease. Neuropathologic examination revealed neuronal and glial TDP-43-immunoreactive deposits, predominantly in subcortical nuclei and brainstem. This is the first report of a TARDBP variation associated with a neurodegenerative syndrome other than ALS. (C) 2009 Movement Disorder Society

引用

页码：1843 / 1847

页数：5

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