A Rare Cause of Ataxia: SPG7 Mutation
Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs and are clinically and genetically heterogeneous. They are clinically classified as pure and complicated forms. HSP may be inherited as autosomal dominant, au...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2022-09-01
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| Series: | Türk Nöroloji Dergisi |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-22804 |
| _version_ | 1797915835715551232 |
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| author | Afra Çelik Banu Özen Barut Rahsan İnan |
| author_facet | Afra Çelik Banu Özen Barut Rahsan İnan |
| author_sort | Afra Çelik |
| collection | DOAJ |
| description | Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs and are clinically and genetically heterogeneous. They are clinically classified as pure and complicated forms. HSP may be inherited as autosomal dominant, autosomal recessive, X-linked, or mitochondrial disorders. A 61-year-old man presented with progressive stiffness, weakness, ataxia in the lower limbs, dysarthria and asymmetric ptosis. None of the family members had such neurological symptoms. Brain magnetic resonance imaging showed cerebellar atrophy. Genetic analysis with whole exome sequencing revealed a homozygous p.Ala572Val (c.1715C>T) exchange mutation in SGP7 gene. SPG 7 mutation is an important cause of adult-onset undiagnosed ataxia. Although the availability of exome sequencing with targeted analysis helps molecular diagnosis of SPG7 easier, it is important to consider SPG7 in the differential diagnosis of adult onset ataxias. In this paper we report a patient with complicated form of HSP with SPG7 mutation. |
| first_indexed | 2024-04-10T12:48:52Z |
| format | Article |
| id | doaj.art-d75eae4f2a4e48af91b34691d1d2c580 |
| institution | Directory Open Access Journal |
| issn | 1309-2545 |
| language | English |
| last_indexed | 2024-04-10T12:48:52Z |
| publishDate | 2022-09-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-d75eae4f2a4e48af91b34691d1d2c5802023-02-15T16:13:56ZengGalenos YayineviTürk Nöroloji Dergisi1309-25452022-09-0128318819010.4274/tnd.2021.22804TJN-22804A Rare Cause of Ataxia: SPG7 MutationAfra Çelik0Banu Özen Barut1Rahsan İnan2University of Health Sciences Turkey, Kartal Dr. Lutfi Kirdar City Hospital, Clinic of Neurology, Istanbul, TurkeyUniversity of Health Sciences Turkey, Kartal Dr. Lutfi Kirdar City Hospital, Clinic of Neurology, Istanbul, TurkeyUniversity of Health Sciences Turkey, Kartal Dr. Lutfi Kirdar City Hospital, Clinic of Neurology, Istanbul, TurkeyHereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs and are clinically and genetically heterogeneous. They are clinically classified as pure and complicated forms. HSP may be inherited as autosomal dominant, autosomal recessive, X-linked, or mitochondrial disorders. A 61-year-old man presented with progressive stiffness, weakness, ataxia in the lower limbs, dysarthria and asymmetric ptosis. None of the family members had such neurological symptoms. Brain magnetic resonance imaging showed cerebellar atrophy. Genetic analysis with whole exome sequencing revealed a homozygous p.Ala572Val (c.1715C>T) exchange mutation in SGP7 gene. SPG 7 mutation is an important cause of adult-onset undiagnosed ataxia. Although the availability of exome sequencing with targeted analysis helps molecular diagnosis of SPG7 easier, it is important to consider SPG7 in the differential diagnosis of adult onset ataxias. In this paper we report a patient with complicated form of HSP with SPG7 mutation.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-22804hereditary spastic paraplegiaataxiaspg7 |
| spellingShingle | Afra Çelik Banu Özen Barut Rahsan İnan A Rare Cause of Ataxia: SPG7 Mutation Türk Nöroloji Dergisi hereditary spastic paraplegia ataxia spg7 |
| title | A Rare Cause of Ataxia: SPG7 Mutation |
| title_full | A Rare Cause of Ataxia: SPG7 Mutation |
| title_fullStr | A Rare Cause of Ataxia: SPG7 Mutation |
| title_full_unstemmed | A Rare Cause of Ataxia: SPG7 Mutation |
| title_short | A Rare Cause of Ataxia: SPG7 Mutation |
| title_sort | rare cause of ataxia spg7 mutation |
| topic | hereditary spastic paraplegia ataxia spg7 |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjn&un=TJN-22804 |
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