Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.
Amyotroph Lateral Scler Frontotemporal Degener
; 25(5-6): 644-647, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-38726482
ABSTRACT
In patients of Asian ancestry, a heterozygous CGG repeat expansion of >100 units in LRP12 is the cause of oculopharyngodistal myopathy type 1 (OPDM1). Repeat lengths of between 61 and 100 units have been associated with rare amyotrophic lateral sclerosis (ALS) cases of Asian ancestry, although with unusually long disease duration and without significant upper motor neuron involvement. This study sought to determine whether LRP12 CGG repeat expansions were also present in ALS patients of European ancestry. Whole-genome sequencing data from 608 sporadic ALS patients, 35 familial ALS probands, and 4703 neurologically normal controls were screened for LRP12 CGG expansions using ExpansionHunter v4. All individuals had LRP12 CGG repeat lengths within the normal range of 3-25 units. To date, LRP12 CGG repeat expansions have not been reported in ALS patients of European ancestry and may be limited to rare ALS patients of Asian ancestry and atypical clinical presentations.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
População Branca
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Esclerose Lateral Amiotrófica
Limite:
Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Amyotroph Lateral Scler Frontotemporal Degener
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Amyotroph. lateral scler. frontotemporal degener. (Online)
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Amyotrophic lateral sclerosis and frontotemporal degeneration (Online)
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Austrália