| Title |
|
|
|
Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts
| |
| Author |
|
|
|
| |
| Abstract |
|
|
|
| There exists considerable clinical and pathological overlap between frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS), which implies that these 2 neurodegenerative conditions share common pathogenic mechanisms. Recently, intermediate-length (27-33) polyglutamine (polyQ) expansions in ataxin-2 (ATXN2) have been associated with increased risk for ALS, while expansions of > 34 repeats are known to cause spinocerebellar ataxia type 2 (Sca-2). We identified in 72 ALS patients one patient with a 33 polyQ expansion that was absent in 810 control individuals. This allele was also found in one patient with concomitant ALS-Sca-2. In contrast, in a Flanders-Belgian series of 270 FTLD and 22 FTLD-ALS patients, we found no association with intermediate-length polyQ expansions nor did we observe patient-specific long expansions in agreement with the recent observation in a screening of a substantial sized cohort of patients with diverse neurodegenerative brain diseases. Our results provide further support to the notion that ATXN2 associated polyglutamine amplification is specific to the ALS-end of the FTLD-ALS disease spectrum. |
| |
| Language |
|
|
|
English
| |
| Source (journal) |
|
|
|
Neurobiology of aging. - Fayetteville, N.Y. | |
| Publication |
|
|
|
Fayetteville, N.Y. : 2012
| |
| ISSN |
|
|
|
0197-4580
| |
| Volume/pages |
|
|
|
33:5(2012), p. 1004,e17-1004,e20
| |
| Article Reference |
|
|
|
1004.e17
| |
| ISI |
|
|
|
000302486200023
| |
| Medium |
|
|
|
E-only publicatie
| |
| Full text (Publisher's DOI) |
|
|
| | |
| Full text (publisher's version - intranet only) |
|
|
| | |
|