A new phenotype of chorea‐acanthocytosis with dilated cardiomyopathy and myopathy

Kageyama, Yasufumi; Matsumoto, Keiji; Ichikawa, Kazuhisa; Ueno, Shu‐ichi; Ichiba, Mio; Nakamura, Masayuki; Sano, Akira

doi:10.1002/mds.21556

Cited by 16 publications

(13 citation statements)

References 5 publications

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“…DCM is unusual in ChAc, with only one previously reported case . The histopathology in this patient resembles the cardiomyopathy of the McLeod neuroacanthocytosis syndrome due to XK mutations .…”

mentioning

confidence: 56%

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea‐acanthocytosis: a case with clinical, pathologic and genetic evaluation

Mente

Kim

Hefti

et al. 2017

Neuropathology Appl Neurobio

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mentioning

confidence: 56%

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea‐acanthocytosis: a case with clinical, pathologic and genetic evaluation

Mente

Kim

Hefti

et al. 2017

Neuropathology Appl Neurobio

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“…Dilated cardiomyopathy was reported in a 40-year-old male in whom McLeod syndrome had been excluded, although genetic confirmation of ChAc was not performed. 38 Left ventricular hypertrophy was reported in a 34-year-old patient with genetically confirmed ChAc who also had tobacco-related pulmonary disease. 39 He died suddenly 4 years later, which was presumed by the authors to be due to cardiac causes.…”

Section: Resultsmentioning

confidence: 99%

Management of Neuroacanthocytosis Syndromes

Walker

2015

Tremor and Other Hyperkinetic Movements

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“…Hence make protein translation due to early termination, which is a pathogenic mutation. There are reports which detects that mutation in ChAc patients is linked with hypertrophic cardiomyopathy/dilated cardiomyopathy [11,12] . It conforms to the common mutation type of the ChAc detected in the genetic mutation in this case.…”

Section: Discussionmentioning

confidence: 99%

Chorea-acanthocytosis:Report of 1 case

2016

Genes Transl Bioinform

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To report one case of chorea-acanthocytosis (ChAc). The case study was done using indicators such as signs, clinical symptoms, biochemical markers, red blood cell morphology and gene sequencing observation. The patient's main signs and symptoms were mouth-tongue dystonia, tongue biting, abnormal gait, seizures, decreased gag reflex, decreased muscle tone, decreased tendon reflex. Blood lactate dehydrogenase (LDH, 459 U/L), creatine kinase (CK, 2806U/L), prolactin (PRL, 38.35ng/ml) were increased. There was a large number of acanthocyte in blood smear (50% of the red blood cell), and there were lots of acanthocytes in the blood smear of her parents (30% of father and 25% of mother). Electromyography showed peripheral nerve damage. Brain MRI scan showed caudate nucleus atrophy. Gene sequencing detected mutations in VPS13A. The following clinical features of the patient was used to diagnose the patient of ChAc: blood LDH, CK, PRL, blood smear, brain MRI imaging characteristics, gene sequencing result. There is limitation in the treatment of the disease. Hence there is the need for monitoring and exploration of effective methods of diagnosis and treatment.

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A new phenotype of chorea‐acanthocytosis with dilated cardiomyopathy and myopathy

Cited by 16 publications

References 5 publications

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea‐acanthocytosis: a case with clinical, pathologic and genetic evaluation

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea‐acanthocytosis: a case with clinical, pathologic and genetic evaluation

Management of Neuroacanthocytosis Syndromes

Chorea-acanthocytosis:Report of 1 case

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