A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

作者：Rohrer Jonathan D; Warren Jason D; Reiman David; Uphill James; Beck Jonathan; Collinge John; Rossor Martin N; Isaacs Adrian M; Mead Simon^*

来源：Journal of Neurology, 2011, 258(8): 1494-1496.

DOI：10.1007/s00415-011-5966-4

• Frontotemporal dementia
• Valosin-containing protein
• Frontotemporal lobar degeneration
• IBMPFD
• Motor neurone disease

Mutations in valosin-containing protein (VCP) are associated with a syndromic constellation of inclusion body myositis, Paget's disease of bone and frontotemporal dementia. Here we describe the case reports of two patients with a novel variation (p.I27V) in the VCP gene that was not identified in a healthy control population. One patient presented with a frontotemporal dementia syndrome associated with raised serum alkaline phosphatase and a family history of progressive muscle disease and behavioural decline, while the second patient presented with isolated progressive dysarthria. Together these cases suggest a potential for the same VCP mutation to produce distinct patterns of brain damage, underlining the clinical heterogeneity of VCP-associated disease.

• 出版日期2011-8