Chorea‐acanthocytosis: Report of two Brazilian cases

Rodrigues, Guilherme; Walker, Ruth H.; Bader, Benedikt; Danek, Adrian; Marques, Wilson; Tumas, Vítor

doi:10.1002/mds.22305

Cited by 15 publications

(12 citation statements)

References 10 publications

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“…Two patients met criteria for chorein testing and had absent or markedly reduced levels in peripheral blood. From these tests, we diagnosed 3 (10.3%) cases of HDL2 and 2 (6.8%) 17,18 . One patient of this study was a deceased sister of one ChAc patient, who presented with chorea and cognitive abnormalities, but whose diagnosis could not be confirmed by Western blot due to the non-availability of required biomaterial.…”

Section: Resultsmentioning

confidence: 98%

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

Rodrigues

Walker

Bader

et al. 2011

Arq. Neuro-Psiquiatr.

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Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and choreaacanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.

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Section: Resultsmentioning

confidence: 98%

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

Rodrigues

Walker

Bader

et al. 2011

Arq. Neuro-Psiquiatr.

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“…All the participants gave informed consent and the study was approved by the local ethics committee. Rodrigues et al [2008] ? ¼ Unknown; ND ¼ not determined.…”

Section: Materials and Methods Patientsmentioning

confidence: 96%

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea‐acanthocytosis

Tomiyasu

Nakamura

Ichiba

et al. 2011

American J of Med Genetics Pt B

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Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms. In the present study, we performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis, of the VPS13A gene in ChAc patients. All 73 exons and flanking regions of VPS13A were sequenced in 35 patients diagnosed with ChAc. To detect CNVs, we also performed real-time quantitative PCR and long-range PCR analyses for the VPS13A gene on patients in whom only a single heterozygous mutation was detected. We identified 36 pathogenic mutations, 20 of which were previously unreported, including two novel CNVs. In addition, we investigated the expression of chorein in 16 patients by Western blotting of erythrocyte ghosts. This demonstrated the complete absence of chorein in patients with pathogenic mutations. This comprehensive screen provides an accurate and useful method for the molecular diagnosis of ChAc.

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“…Patients 1–8 include the 6 patients described in the previously described VBM study (Henkel et al 2006) and patients 1–7 reported by (Huppertz et al 2008). Patient 9 has been previously clinically described (Robertson et al 2008; Walterfang et al 2008) and patient 11 corresponds to case 2 of (Rodrigues et al 2008). Patients 12 & 13 are two previously unpublished siblings from Australia.…”

Section: Methodsmentioning

confidence: 99%

Shape alterations in the striatum in chorea-acanthocytosis

Walterfang

Looi

Styner

et al. 2011

Psychiatry Research: Neuroimaging

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Objective Chorea-acanthocytosis (ChAc) is an uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome. ChAc may first present with neuropsychiatric disturbance such as obsessive-compulsive disorder (OCD), suggesting a particular role for disruption to striatal structures involved in non-motor frontostriatal loops, such as the head of the caudate nucleus. Two previous studies have suggested a marked reduction in volume in the caudate nucleus and putamen, but did not examine morphometric change. Methods We investigated morphometric change in 13 patients with genetically or biochemically confirmed ChAc and 26 age- and gender-matched controls. Subjects underwent magnetic resonance imaging and manual segmentation of the caudate nucleus and putamen, and shape analysis using a non-parametric spherical harmonic technique. Results Both structures showed significant and marked reductions in volume compared to controls, with reduction greatest in the caudate nucleus. Both structures showed significant shape differences, particularly in the head of the caudate nucleus. No significant correlation was shown between duration of illness and striatal volume or shape, suggesting that much structural change may have already taken place at the time of symptom onset. Conclusions Our results suggest that striatal neuron loss may occur early in the disease process, and follows a dorsal-ventral gradient that may correlate with early neuropsychiatric and cognitive presentations of the disease.

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Chorea‐acanthocytosis: Report of two Brazilian cases

Cited by 15 publications

References 10 publications

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype

Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea‐acanthocytosis

Shape alterations in the striatum in chorea-acanthocytosis

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