Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree

Ichiba, Mio; Nakamura, Masayuki; Kusumoto, Akira; Mizuno, Emiko; Kurano, Yutaka; Matsuda, M; Kato, Maiko; Agemura, Asumi; Tomemori, Yuko; Muroya, Shinji; Nakabeppu, Yoshiaki; Sano, Akira

doi:10.1016/j.jns.2007.07.011

Cited by 34 publications

(22 citation statements)

References 27 publications

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“…Although chorein assay was not performed in P3 and acanthocytes were never detected, the very typical clinical features as along with CK elevation make the diagnosis of ChAc probable, particularly in view of diagnostic confirmation of this autosomal‐recessive condition in her sister. Weight loss due to feeding dystonia and dysphagia are typical features, yet excessive weight gain due to compulsive overeating, as in Case P3, has been noted previously in ChAc 7…”

Section: Discussionsupporting

confidence: 51%

Chorea‐acanthocytosis: Report of two Brazilian cases

et al. 2008

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Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection. Patient 1 is a 36-year-old man with chorea, epilepsy, myopathy, and suicidal ideation. Patient 2 is a 60-year-old woman with a 30 year history of psychiatric disturbances, epilepsy, choreic movements, and myopathy. Both patients had acanthocytosis, elevated creatine kinase (CK), and absence of chorein on Western blot analysis. The presence of chorea and neuropsychiatric disturbances associated with elevated CK levels, epilepsy, hyporeflexia, and acanthocytosis suggests the diagnosis of ChAc. Chorein assay of peripheral blood confirms the diagnosis.

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Section: Discussionsupporting

confidence: 51%

Chorea‐acanthocytosis: Report of two Brazilian cases

et al. 2008

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“…The subjects were examined using the Mini-Mental State Examination (MMSE) [17], the standard language test of aphasia (SLTA) [18], Alzheimer’s Disease Assessment Scale, cognitive component, Japanese version (ADAS-Jcog) [19,20], the Trail Making Test [19], and the Modified Stroop Test [20]. …”

Section: Methodsmentioning

confidence: 99%

Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L Mutation

Ishizuka

Nakamura

Ichiba

et al. 2012

Dement Geriatr Cogn Disord

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Background: Mutations in the presenilin-1 gene (PSEN1) have been identified in autosomal dominant early-onset cases of Alzheimer’s disease (AD). Aims: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L mutation in the PSEN1 gene. Methods: We evaluated clinical features, neuroimaging results, and neuropsychological examinations. The PSEN1 gene and other dementia-related gene mutations were screened. Results: We clinically diagnosed the proband as atypical AD with frontotemporal dementia features and diagnosed the elder brother of the proband as typical AD, based on neuropsychological symptoms and a brain imaging examination including amyloid imaging data. A heterozygous P264L mutation in the PSEN1 gene was identified in both siblings. Conclusion: This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene. The current results suggest that unknown modifiers, including both genetic and epigenetic factors, may alter the pathological and clinical phenotypes of a genetically predetermined disease.

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“…On the standard language test of aphasia (SLTA) [19], he was unable to understand the name of an object and the meaning of a word that expresses movement, and he had a marked impairment in his ability to generate words with a specified initial letter. The Trail Making Test [20] and the Modified Stroop Test [21] showed no abnormalities. He was concentrated during all examinations, and his attentiveness did not deteriorate.…”

Section: Methodsmentioning

confidence: 99%

Familial Semantic Dementia with P301L Mutation in the Tau Gene

Ishizuka

Nakamura

Ichiba

et al. 2011

Dement Geriatr Cogn Disord

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Background/Aims: Semantic dementia (SD) is a clinical subclassification of frontotemporal lobar degeneration. Patients with ‘pure SD’ present with semantic memory impairment preceding the frontal symptoms, and there have been no reports of familial cases. Methods: We evaluated the clinical features of, and performed neuropsychological examinations on, the proband and two affected family members. Then we performed neuroimaging and genetic analysis of MAPT and other dementia-related genes in the proband. Results: All three cases had semantic memory impairment with loss of word meanings as the primary early symptom. We diagnosed all cases as pure SD and identified a P301L mutation in the MAPT gene of the proband. Conclusion: Although the P301L mutation identified here has been previously described as pathogenic for frontotemporal dementia with parkinsonism-17 (FTDP-17), the proband and his two affected relatives showed different clinical symptoms from those of typical FTDP-17 cases who carry the P301L mutation. Pathologically, pure SD usually shows a TAR DNA-binding protein proteinopathy, but the molecular understanding of SD is not well established. Although our cases were clinically pure SD, the proband has a tau gene mutation, which would lead to tauopathy. These findings suggest that reconsideration of the molecular understanding of SD is warranted.

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Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree

Cited by 34 publications

References 27 publications

Chorea‐acanthocytosis: Report of two Brazilian cases

Chorea‐acanthocytosis: Report of two Brazilian cases

Different Clinical Phenotypes in Siblings with a Presenilin-1 P264L Mutation

Familial Semantic Dementia with P301L Mutation in the Tau Gene

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