Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome

Mariën, Peter; Brouns, Raf; Engelborghs, Sebastiaan; Wackenier, Peggy; Verhoeven, Jo; Ceulemans, Berten; Deyn, Peter Paul De

doi:10.1016/j.cortex.2005.12.001

Cited by 37 publications

(17 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although a systematic evaluation of the cognitive and behavioral profile of ITPR1 mutated patients has not been performed, most patients with SCA29 show a cognitive profile within the lower limit of the normal range whereas individuals with ITPR1-related Gillespie syndrome present a moderate to severe intellectual disability. A GS patient with cerebellar cognitive affective syndrome without global intellectual disability has also been reported ( Mariën et al, 2008 ). Our study expands the mutational and clinical spectrum of ITPR1-related congenital ataxia and confirms that screening of ITPR1 and other genes involved in Ca2 + homeostasis should be implemented in patients with early-onset ataxia with or without iris hypoplasia.…”

Section: Discussionmentioning

confidence: 99%

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Dentici

Barresi

Nardella

et al. 2017

Gene

View full text Add to dashboard Cite

ITPR1 encodes an intracellular receptor for inositol 1,4,5-trisphosphate (InsP3) which is highly expressed in the cerebellum and is involved in the regulation of Ca2 + homeostasis. Missense mutations in the InsP3-binding domain (IRBIT) of ITPR1 are frequently associated with early onset cerebellar atrophy. Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris hypoplasia. Dominant or recessive ITPR1 mutations have been recently associated with this form of syndromic ataxia. We performed next generation sequencing in two simplex families with Gillespie syndrome and identified de novo pathological mutations localized in the C-terminal channel domain of ITPR1 in both patients: a recurrent deletion (p.Lys2596del) and a novel missense mutation (p.Asn2576Ile) close to a point of constriction in the Ca2 + pore. Our study expands the mutational spectrum of ITPR1 and confirms that ITPR1 screening should be implemented in patients with congenital cerebellar ataxia with or without iris hypoplasia.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Dentici

Barresi

Nardella

et al. 2017

Gene

View full text Add to dashboard Cite

show abstract

“…Persisting affective, behavioural and social difficulties were recorded as well. The constellation of cognitive and affective disturbances in this patient strongly suggests that DCD closely relates to the 'cerebellar cognitive affective syndrome' (CCAS) which in addition to executive, visuo-spatial and linguistic inpairments also includes affective dysregulation and which may accompany acquired [9] as well as developmental [10] cerebellar disorders.…”

Section: [Insert Table 1 Near Here] Discussionmentioning

confidence: 99%

Developmental Coordination Disorder: Disruption of the Cerebello-Cerebral Network evidenced by SPECT

et al. 2010

Self Cite

View full text Add to dashboard Cite

show abstract

“…Instead, their iris patterns are captured by a video camera for comparison against a database of authorized persons (Daugman, 2006). Furthermore, tissue markers in the iris are associated with eye diseases such as ocular melanoma, glaucoma (Chang et al., 1999), pigment dispersion and pseudoexfoliation syndrome (Asano et al., 1995), as well as neurological disease such as Downs Syndrome (Donaldson, 1961), Neurofibromatosis type 1 (Lee and Stephenson, 2007) and Gillespie syndrome (Marien et al., 2008; Ticho et al., 2006), which suggests that the development of the iris and brain are linked.…”

Section: Introductionmentioning

confidence: 99%

Genetics of human iris colour and patterns

Sturm

Larsson

2009

Pigment Cell Melanoma Res

187

128

View full text Add to dashboard Cite

SummaryThe presence of melanin pigment within the iris is responsible for the visual impression of human eye colouration with complex patterns also evident in this tissue, including Fuchs' crypts, nevi, Wolfflin nodules and contraction furrows. The genetic basis underlying the determination and inheritance of these traits has been the subject of debate and research from the very beginning of quantitative trait studies in humans. Although segregation of blue-brown eye colour has been described using a simple Mendelian dominant-recessive gene model this is too simplistic, and a new molecular genetic perspective is needed to fully understand the biological complexities of this process as a polygenic trait. Nevertheless, it has been estimated that 74% of the variance in human eye colour can be explained by one interval on chromosome 15 that contains the OCA2 gene. Fine mapping of this region has identified a single base change rs12913832 T ⁄ C within intron 86 of the upstream HERC2 locus that explains almost all of this association with blue-brown eye colour. A model is presented whereby this SNP, serving as a target site for the SWI ⁄ SNF family member HLTF, acts as part of a highly evolutionary conserved regulatory element required for OCA2 gene activation through chromatin remodelling. Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6.

show abstract

Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome

Cited by 37 publications

References 43 publications

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Developmental Coordination Disorder: Disruption of the Cerebello-Cerebral Network evidenced by SPECT

Genetics of human iris colour and patterns

Contact Info

Product

Resources

About