Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene

doi:10.1016/j.jns.2019.116555

Journal of the Neurological Sciences

Volume 408, 15 January 2020, 116555

https://doi.org/10.1016/j.jns.2019.116555 Get rights and content

Highlights

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Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disease.
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Two novel heterozygous VPS13A gene mutations were identified in a ChAc patient.
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Often insufficient routine blood smear tests were not diagnostic for acanthocytosis.

Section snippets

Declarations of Competing Interest

None.

Ethical aspects

Ethical approval for this study was obtained from the local ethics committee and written informed consent was obtained from the individual.

Acknowledgements

This work was supported by Helsinki University Hospital.

References (9)

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis
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The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
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K. Mente et al.
Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation
Neuropathol. Appl. Neurobiol.
(2017)

There are more references available in the full text version of this article.

Cited by (3)

Acupuncture for treating symptoms associated with chorea-acanthocytosis: A CARE-compliant case report
2023, Explore
Citation Excerpt :
Major clinical manifestations of ChAc are involuntary movements of the mouth, tongue and face, chorea-like movements, seizures, cognitive dysfunction, psychiatric abnormalities and other multisystem impairments.5 ChAc can affect diverse systemic systems,such as motor, nervous, spiritual, endocrine and other systemic systems.4,6,7,8,9 Herein we report a case of ChAc that responds well to acupuncture.
Chorea-acanthocytosis (ChAc) is the most common type of neuroacanthocytosis syndromes. Characteristic movement disorders of ChAc are choreiform movements affecting both trunk and extremities. Acanthocytosis in peripheral blood smear, elevated serum creatine kinase, atrophy of heads of caudate nuclei and dilation of the anterior horn of the lateral ventricles in magnetic resonance imaging could assist the diagnosis of ChAc.
We aimed to report on the use of acupuncture to successfully improve ChAc symptoms.
A patient with definite ChAc was admitted, who had suffered from involuntary tongue protrusion for about 10 years. Acupuncture treatment was administrated for 3 times a week for 2 months. The chorea tremor control area, Baihui (GV20), Sishencong (EX-HN1), Shenting (GV24), Benshen (GB13, bilateral), Yintang (GV29), Neiguan (PC6, bilateral), Tongli (HT5, bilateral), Zusanli (ST36, bilateral), Sanyinjiao (SP6, bilateral), Dicang (ST4, bilateral), Chengjiang (CV24), Lianquan (CV23), Jinjin (EX-HN12) and Yuye (EX-HN13) were selected as acupunture points.
Previous drug dosage was reduced and the frequency of involuntary tongue protrusion was significantly reduced. Other clinical symptoms were also well controlled. Peripheral blood smear still indicated an increased proportion of red lineage, but blood analyses revealed improvement at follow-up.
For patients who do not response well to conventional medical treatments, acupuncture might be used as an alternative treatment for symptoms related to ChAc.
Chorea-echinocytosis caused by two novel compound heterozygous mutations in the VPS13A gene: a case report and literature review
2023, Research Square
Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
2021, Case Reports in Neurology

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Letter to the EditorChorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene

Highlights

Section snippets

Declarations of Competing Interest

Ethical aspects

Acknowledgements

Neurologic phenotypes associated with acanthocytosis

Neurology

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

Nat. Genet.

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

Nat. Genet.

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

Neuropathol. Appl. Neurobiol.

Letter to the Editor
Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene