hnRNPA2B1 and hnRNPA1 mutations are rare in patients with 鈥渕ultisystem proteinopathy鈥?and frontotemporal lobar degeneration phenotypes
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- 作者：Isabelle Le Ber ; Inge Van Bortel ; Gael Nicolas ; Kawtar Bouya-Ahmed ; Agn猫s Camuzat ; David Wallon ; Anne De Septenville ; Morwena Latouche ; Serena Lattante ; Edor Kabashi ; Ludmila Jornea ; Didier Hannequin ; Alexis Brice ; French research Network on FTLD/FTLD-ALS
- 关键词：FTD ; FTLD ; ALS ; Paget disease of bone ; Multisystem proteinopathy ; IBMPFD ; hnRNPA1 ; hnrRNPA2B1 ; VCP ; SQSTM1 ; Prion-like domain ; TDP-43
- 刊名：Neurobiology of Aging
- 出版年：April, 2014
- 年：2014
- 卷：35
- 期：4
- 页码：934.e5-934.e6
- 全文大小：149 K
文摘
hnRNPA2B1 and hnRNPA1 mutations have been recently identified by exome sequencing in three families presenting with multisystem proteinopathy (MSP), a rare complex phenotype associating frontotemporal lobar degeneration (FTLD), Paget disease of bone (PDB), inclusion body myopathy (IBM), and amyotrophic lateral sclerosis (ALS). No study has evaluated the exact frequency of these genes in cohorts of MSP or FTD patients so far. We sequenced both genes in 17 patients with MSP phenotypes, and in 60 patients with FTLD and FTLD-ALS to test whether mutations could be implicated in the pathogenesis of these disorders. No disease-causing mutation was identified. We conclude that hnRNPA2B1 and hnRNPA1 mutations are rare in MSP and FTLD spectrum of diseases, although further investigations in larger populations are needed.