Frontotemporal Dementia in a Brazilian Kindred With the C9orf72 Mutation

被引：29

作者：

Takada, Leonel T. ^{[1
]}

Pimentel, Maria Lucia V. ^{[3
,4
]}

DeJesus-Hernandez, Mariely ^{[5
]}

Fong, Jamie C. ^{[1
]}

Yokoyama, Jennifer S. ^{[1
]}

Karydas, Anna ^{[1
]}

Thibodeau, Marie-Pierre ^{[6
]}

Rutherford, Nicola J. ^{[5
]}

Baker, Matthew C. ^{[5
]}

Lomen-Hoerth, Catherine ^{[2
]}

Rademakers, Rosa ^{[5
]}

Miller, Bruce L. ^{[1
]}

机构：

[1] Univ Calif San Francisco, Memory & Aging Ctr, San Francisco, CA 94143 USA

[2] Univ Calif San Francisco, ALS Ctr, San Francisco, CA 94143 USA

[3] Pontif Catholic Univ, Rio De Janeiro, Brazil

[4] Univ Gama Filho, Rio De Janeiro, Brazil

[5] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

[6] Univ Montreal, Hop Notre Dame, Ctr Hosp Univ Montreal, Montreal, PQ, Canada

来源：

ARCHIVES OF NEUROLOGY | 2012年 / 69卷 / 09期

基金：

美国国家卫生研究院;

关键词：

MOTOR-NEURON DISEASE; AMYOTROPHIC-LATERAL-SCLEROSIS; HEXANUCLEOTIDE REPEAT; ALS; NEURODEGENERATION; FTD;

D O I：

10.1001/archneurol.2012.650

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objectives: To describe the clinical features of a Brazilian kindred with C9orf72 frontotemporal dementia-amyotrophic lateral sclerosis and compare them with other described families with C9orf72 and frontotemporal dementia-amyotrophic lateral sclerosis-causing mutations. Design: Report of a kindred. Setting: Dementia center at a university hospital. Patients: One kindred encompassing 3 generations. Results: The presence of a hexanucleotide (GGGGCC) expansion in C9orf72 was confirmed by repeat-primed polymerase chain reaction and Southern blot. The observed phenotypes were behavioral variant frontotemporal dementia and amyotrophic lateral sclerosis with dementia, with significant variability in age at onset and duration of disease. Parkinsonian features with focal dystonia, visual hallucinations, and more posterior atrophy on neuroimaging than is typical for frontotemporal dementia were seen. Conclusions: Behavioral variant frontotemporal dementia due to C9orf72 expansion displays some phenotypic heterogeneity and may be associated with hallucinations, parkinsonism, focal dystonia, and posterior brain atrophy. Personality changes may precede the diagnosis of dementia by many years and may be a distinguishing feature of this mutation. Arch Neurol. 2012; 69(9): 1149-1153. Published online May 14, 2012. doi:10.1001/archneurol.2012.650

引用

页码：1149 / 1153

页数：5

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