TY - JOUR
T1 - ALS-FTD complex disorder due to C9ORF72 gene mutation
T2 - Description of first polish family
AU - Siuda, Joanna
AU - Lewicka, Tatiana
AU - Bujak, Malgorzata
AU - Opala, Grzegorz
AU - Golenia, Aleksandra
AU - Slowik, Agnieszka
AU - Van Blitterswijk, Marka
AU - Baker, Matt
AU - Ertekin-Taner, Nilufer
AU - Wszolek, Zbigniew K.
AU - Rademakers, Rosa
N1 - Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 2014/7
Y1 - 2014/7
N2 - Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. Results: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected. Conclusion: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder.
AB - Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. Results: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected. Conclusion: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder.
KW - ALS-FTD complex disorder
KW - C9ORF72 gene mutation
KW - Familial ALS-FTD
KW - Phenotype
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U2 - 10.1159/000362267
DO - 10.1159/000362267
M3 - Article
C2 - 24861139
AN - SCOPUS:84901182151
SN - 0014-3022
VL - 72
SP - 64
EP - 71
JO - European Neurology
JF - European Neurology
IS - 1-2
ER -