Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

Pyle, Angela; Horvath, Rita; Chinnery, Patrick F.

doi:10.1001/2013.jamaneurol.389

Cited by 2 publications

(1 citation statement)

References 4 publications

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“…The trend started as early as in 2000, when several Tunisian patients previously diagnosed with another class of cerebellar ataxia were found to harbor mutations at loci linked to SACS (17). Since then, many other ARSACS patient groups have been identified in Italy (18)(19)(20), Japan (21)(22)(23)(24)(25)(26)(27), Britain (28), France (29)(30)(31), Spain (32)(33)(34), Netherlands (35) and Belgium (16,36,37). All identified ARSACS patients shared the core symptoms of ARSACS (early onset spasticity and ataxia increasing in severity over time accompanied by dysarthria/slurred speech, nystagmus/vision impairment and amyotrophy/muscle wasting) despite a few minor clinical variations, such as later onset and the lack of retinal striation or mental retardation.…”

Section: "Arsacs Goes Global"mentioning

confidence: 99%

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): a once obscure neurodegenerative disease with increasing significance for neurological research

2013

MSURJ

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Background: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare cerebellar ataxia occurring in the Charlevoix-Saguenay population in Quebec with high incidence as a result of founder effects. Following the discovery of the gene responsible for the disease, many other patient groups have been identified worldwide and the characterization of the gene product, sacsin, has unveiled similarities between the pathogenic mechanism of ARSACS and those of other major neurodegenerative disease. Summary: The core symptoms of ARSACS consist of a triad of early-onset cerebellar ataxia, peripheral neuropathy and spasticity, which is accounted by degeneration of Purkinje neurons. The gene responsible for the disease is located on chromosome 13q11 and encodes for the chaperone sacsin. Drp-1, a GTPase crucial for regulating mitochondrial fission/fusion dynamics, has been identified as a potential substrate of sacsin, suggesting a link between the pathogenic mechanisms of ARSACS and prevalent neurodegenerative diseases such as Alzheimer’s, Parkinson’s and Huntington’s diseases.

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Section: "Arsacs Goes Global"mentioning

confidence: 99%

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): a once obscure neurodegenerative disease with increasing significance for neurological research

2013

MSURJ

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Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

et al. 2013

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We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS gene establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The clinical features shown by our patients were typical of this disorder with the exception of epilepsy, which is a rare manifestation. This is the first report of ARSACS in Scandinavian patients and our findings expand the genetic and clinical spectrum of this rare disorder. Moreover, we show that exome sequencing is a powerful and cost-effective tool for the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias.

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

Cited by 2 publications

References 4 publications

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): a once obscure neurodegenerative disease with increasing significance for neurological research

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): a once obscure neurodegenerative disease with increasing significance for neurological research

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

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