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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2021-06-01
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| Series: | Case Reports in Neurology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/515805 |
| _version_ | 1818665497241059328 |
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| author | Steven D. Mitchell Roger L. Albin William T. Dauer John L. Goudreau Christos Sidiropoulos |
| author_facet | Steven D. Mitchell Roger L. Albin William T. Dauer John L. Goudreau Christos Sidiropoulos |
| author_sort | Steven D. Mitchell |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-17T05:49:34Z |
| format | Article |
| id | doaj.art-96391b744ee14364a67c070173ca3fdd |
| institution | Directory Open Access Journal |
| issn | 1662-680X |
| language | English |
| last_indexed | 2024-12-17T05:49:34Z |
| publishDate | 2021-06-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Neurology |
| spelling | doaj.art-96391b744ee14364a67c070173ca3fdd2022-12-21T22:01:12ZengKarger 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 |
| 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 |
| title | 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_short | 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 |
| topic | chorea-acanthocytosis neuroacanthocytosis parkinsonism park2 vacuolar protein sorting 13a |
| url | https://www.karger.com/Article/FullText/515805 |
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