Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar p...

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Main Authors:	Steven D. Mitchell, Roger L. Albin, William T. Dauer, John L. Goudreau, Christos Sidiropoulos
Format:	Article
Language:	English
Published:	Karger Publishers 2021-06-01
Series:	Case Reports in Neurology
Subjects:	chorea-acanthocytosis neuroacanthocytosis parkinsonism park2 vacuolar protein sorting 13a
Online Access:	https://www.karger.com/Article/FullText/515805

id	doaj-96391b744ee14364a67c070173ca3fdd
record_format	Article
spelling	doaj-96391b744ee14364a67c070173ca3fdd2021-07-08T12:58:11ZengKarger PublishersCase Reports in Neurology1662-680X2021-06-0113234134610.1159/000515805515805Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and SeizuresSteven D. Mitchell0Roger L. Albin1William T. Dauer2John L. Goudreau3Christos Sidiropoulos4Department of Neurology, Michigan State University, East Lansing, MI, USADepartment of Neurology, University of Michigan, Ann Arbor, MI, USADepartment of Neurology and Neurotherapeutics, O’Donnell Brain Institute, Dallas, TX, USADepartment of Neurology, Michigan State University, East Lansing, MI, USADepartment of Neurology, Michigan State University, East Lansing, MI, USANeuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene. We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Neurologic examinations showed cognitive impairment and marked parkinsonian signs. MRI showed bilateral basal ganglia gliosis. He was found to have a novel heterozygous mutation in the VPS13A gene, in addition a heterozygous mutation in the PARK2 gene. His clinical picture was atypical for typical chorea-acanthocytosis (ChAc). The compound heterozygous mutations of VPS13A and PARK2 provide the most plausible explanation for this patient’s clinical symptoms. This case adds to the phenotypic diversity of ChAc. More research is needed to fully understand the roles of epistatic interactions on phenotypic expression of neurodegenerative diseases.https://www.karger.com/Article/FullText/515805chorea-acanthocytosisneuroacanthocytosisparkinsonismpark2vacuolar protein sorting 13a
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Steven D. Mitchell Roger L. Albin William T. Dauer John L. Goudreau Christos Sidiropoulos
spellingShingle	Steven D. Mitchell Roger L. Albin William T. Dauer John L. Goudreau Christos Sidiropoulos Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures Case Reports in Neurology chorea-acanthocytosis neuroacanthocytosis parkinsonism park2 vacuolar protein sorting 13a
author_facet	Steven D. Mitchell Roger L. Albin William T. Dauer John L. Goudreau Christos Sidiropoulos
author_sort	Steven D. Mitchell
title	Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
title_short	Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
title_full	Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
title_fullStr	Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
title_full_unstemmed	Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
title_sort	heterozygous vps13a and park2 mutations in a patient with parkinsonism and seizures
publisher	Karger Publishers
series	Case Reports in Neurology
issn	1662-680X
publishDate	2021-06-01
description	Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene. We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Neurologic examinations showed cognitive impairment and marked parkinsonian signs. MRI showed bilateral basal ganglia gliosis. He was found to have a novel heterozygous mutation in the VPS13A gene, in addition a heterozygous mutation in the PARK2 gene. His clinical picture was atypical for typical chorea-acanthocytosis (ChAc). The compound heterozygous mutations of VPS13A and PARK2 provide the most plausible explanation for this patient’s clinical symptoms. This case adds to the phenotypic diversity of ChAc. More research is needed to fully understand the roles of epistatic interactions on phenotypic expression of neurodegenerative diseases.
topic	chorea-acanthocytosis neuroacanthocytosis parkinsonism park2 vacuolar protein sorting 13a
url	https://www.karger.com/Article/FullText/515805
work_keys_str_mv	AT stevendmitchell heterozygousvps13aandpark2mutationsinapatientwithparkinsonismandseizures AT rogerlalbin heterozygousvps13aandpark2mutationsinapatientwithparkinsonismandseizures AT williamtdauer heterozygousvps13aandpark2mutationsinapatientwithparkinsonismandseizures AT johnlgoudreau heterozygousvps13aandpark2mutationsinapatientwithparkinsonismandseizures AT christossidiropoulos heterozygousvps13aandpark2mutationsinapatientwithparkinsonismandseizures
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Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures

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