Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype.
BACKGROUND: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). METHODS/RESULTS: Sequencing of the polymerase-γ 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
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2011
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| _version_ | 1797057507573628928 |
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| author | Mehta, A Fox, S Tarnopolsky, M Yoon, G |
| author_facet | Mehta, A Fox, S Tarnopolsky, M Yoon, G |
| author_sort | Mehta, A |
| collection | OXFORD |
| description | BACKGROUND: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). METHODS/RESULTS: Sequencing of the polymerase-γ 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy revealed the presence of multiple mitochondrial DNA deletions and depletion, confirming the pathogenic nature of the POLG1 mutations. DISCUSSION: This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population. |
| first_indexed | 2024-03-06T19:37:23Z |
| format | Journal article |
| id | oxford-uuid:1f7e3c1f-2aa7-46cd-a0e7-0416848e0e8f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:37:23Z |
| publishDate | 2011 |
| record_format | dspace |
| spelling | oxford-uuid:1f7e3c1f-2aa7-46cd-a0e7-0416848e0e8f2022-03-26T11:22:14ZMitochondrial mimicry of multiple system atrophy of the cerebellar subtype.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:1f7e3c1f-2aa7-46cd-a0e7-0416848e0e8fEnglishSymplectic Elements at Oxford2011Mehta, AFox, STarnopolsky, MYoon, G BACKGROUND: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). METHODS/RESULTS: Sequencing of the polymerase-γ 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy revealed the presence of multiple mitochondrial DNA deletions and depletion, confirming the pathogenic nature of the POLG1 mutations. DISCUSSION: This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population. |
| spellingShingle | Mehta, A Fox, S Tarnopolsky, M Yoon, G Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. |
| title | Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. |
| title_full | Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. |
| title_fullStr | Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. |
| title_full_unstemmed | Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. |
| title_short | Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype. |
| title_sort | mitochondrial mimicry of multiple system atrophy of the cerebellar subtype |
| work_keys_str_mv | AT mehtaa mitochondrialmimicryofmultiplesystematrophyofthecerebellarsubtype AT foxs mitochondrialmimicryofmultiplesystematrophyofthecerebellarsubtype AT tarnopolskym mitochondrialmimicryofmultiplesystematrophyofthecerebellarsubtype AT yoong mitochondrialmimicryofmultiplesystematrophyofthecerebellarsubtype |