A Major Genetic Factor at Chromosome 9p Implicated in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)

Gijselinck, Ilse; Sleegers, Kristel; Broeckhoven, Christine Van; Cruts, Marc

doi:10.5772/31571

Cited by 2 publications

(2 citation statements)

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“…In 2006, genetic linkage was reported at chromosome 9p21.3-9p21.1 in families with concomitant ALS and FTLD (Momeni et al 2006;Morita et al 2006;Vance et al 2006). Since then, several families have been reported with conclusive or suggestive linkage to overlapping genomic regions (for review, see Gijselinck et al 2012a). Despite the relatively small 3.6-Mb genomic segment shared by all conclusively linked families and major gene sequencing efforts by multiple research groups, the genetic defect remained long undetected.…”

Section: Identification Of C9orf72 Repeat Expansionsmentioning

confidence: 99%

The Genetics ofC9orf72Expansions

Gijselinck¹,

Cruts²,

Broeckhoven³

2017

Cold Spring Harb Perspect Med

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Repeat expansions in the promoter region of are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among patients with a repeat expansion has been observed, and genetic anticipation over different generations has been suggested. Genetic factors modifying the clinical phenotype have been proposed, including genetic variation in other known disease genes, the genomic context of the repeat, and expanded repeat size, which has been estimated between 45 and several thousand units. The role of variability in normal and expanded repeat sizes for disease risk and clinical phenotype is under debate. Different pathogenic mechanisms have been proposed, including loss of function, RNA toxicity, and dipeptide repeat (DPR) protein toxicity resulting from abnormal translation of the expanded repeat, but the major mechanism is yet unclear.

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Section: Identification Of C9orf72 Repeat Expansionsmentioning

confidence: 99%

The Genetics ofC9orf72Expansions

Gijselinck¹,

Cruts²,

Broeckhoven³

2017

Cold Spring Harb Perspect Med

Self Cite

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show abstract

“…The combined evidence emerging from all molecular genetic studies in chromosome 9p21-linked families and in chromosome 9p21-associated ALS/FTLD populations, suggests that it is the most important genetic factor contributing to the disease in the centre of the disease spectrum linking ALS and FTLD [83].…”

Section: More Update On Alsmentioning

confidence: 99%

Introductory Chapter: Introduction to Update in Amyotrophic Lateral Sclerosis and Review of this Condition in Sportsmen

Foyaca-Sibat¹,

Valdés²

2016

Update on Amyotrophic Lateral Sclerosis

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A Major Genetic Factor at Chromosome 9p Implicated in Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD)

Cited by 2 publications

References 50 publications

The Genetics ofC9orf72Expansions

The Genetics ofC9orf72Expansions

Introductory Chapter: Introduction to Update in Amyotrophic Lateral Sclerosis and Review of this Condition in Sportsmen

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