A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

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• 作者：Giuseppe  ; Borghero^a ; Gianluca  ; Floris^a ; Antonino  ; Cannas^a ; Maria G.  ; Marrosu^a ; Maria R.  ; Murru^b ; Emanuela  ; Costantino^a ; Leslie D.  ; Parish^c ; Maura  ; Pugliatti^c ; Anna  ; Ticca^d ; Bryan J.  ; Traynor^e ;   ; ^f ; Andrea  ; Calvo^g ; Stefania  ; Cammarosano^g ; Cristina  ; Moglia^g ; Angelina  ; Cistaro^h ; Maura  ; Brunettiⁱ ; Gabriella  ; Restagnoⁱ ;   ; ¹ ; Adriano  ; Chiò ; ^g ;   ; ¹ ;   ; ^{achio@usa.net}
• 关键词：amyotrophic lateral sclerosis ; frontotemporal dementia ; TARDBP ; homozygous mutation
• 刊名：Neurobiology of Aging
• 出版年：2011
• 出版时间：December 2011
• 年：2011
• 卷：32
• 期：12
• 页码：2327.e1-2327.e5
• 全文大小：1549 K

文摘

We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of amyotrophic lateral sclerosis (ALS) cases on the Mediterranean island of Sardinia (). In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). Due to the uniqueness of this case, here we provide a detailed clinical description, as well as neurophysiological, neuropsychological, and neuroimaging data for that case and his extended family.