Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of Two Male Sibs

Verhoeven, W.M.A.; Egger, J.I.M.; Ahmed, Amir I. M.; Kremer, Berry; Vermeer, Sascha; Warrenburg, B.P.C. van de

doi:10.1159/000331319

Cited by 23 publications

(20 citation statements)

References 41 publications

(20 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Age of onset and clinical presentation in this case were similar to the initial reports, except for cognitive disability, described only occasionally in reports outside Québec [22,23]. IQ score, when normal, tend to be in the lower range.…”

Section: Discussionsupporting

confidence: 82%

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

Pimenta¹,

Costa²,

Alonso³

et al. 2017

Pediatr Dimensions

View full text Add to dashboard Cite

Introduction: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disease characterized by cerebellar ataxia, peripheral neuropathy and pyramidal tract signs. Since its first report from Québec, more than 100 disease-causing variants have been reported in ARSACS, with variable clinical presentation. MRI imaging may help establishing the clinical diagnosis, especially if typical changes are present.

show abstract

Section: Discussionsupporting

confidence: 82%

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

Pimenta¹,

Costa²,

Alonso³

et al. 2017

Pediatr Dimensions

View full text Add to dashboard Cite

show abstract

“…Early childhood/congenital onset was observed in a cousin of the probands (V:2, Figure 1); however, early cognitive impairment was also present. Her phenotype could be explained by a coincidental birth injury, or an effect of marked environmental deprivation, upon which the familial ARCA was superimposed; although we note also more recent reports of a proposed cognitive/psychological component per se of ARSACS [28,29], and it is speculative whether this may have been a factor.…”

Section: Discussionmentioning

confidence: 69%

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

et al. 2015

View full text Add to dashboard Cite

Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*), establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Our findings expand both the genetic and phenotypic spectrum of this rare disorder, and highlight the value of high-density SNP analysis and whole exome sequencing as powerful and cost-effective tools in the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias.

show abstract

“…These genetic changes clearly explain two of the major clinical features of Fitzsimmons syndrome, the spasticity/dysarthria and the brachydactyly. No obvious cause was identified for the twins' low-normal intelligence; however, it has been postulated that cognitive deficits can present as a part of ARSACS [Verhoeven et al, 2012]. Alternatively, given the non-specificity of this finding, it may be a genetic etiology undetected by these exome studies, or secondary to other contributing genetic factors.…”

Section: Exome Analysismentioning

confidence: 92%

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events

Armour

Smith

Hartley

et al. 2016

American J of Med Genetics Pt A

View full text Add to dashboard Cite

In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc.

show abstract

Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of Two Male Sibs

Cited by 23 publications

References 41 publications

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events

Contact Info

Product

Resources

About