Publication
Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.
| dc.contributor.author | Sequeira, Marta | |
| dc.contributor.author | Godinho, Filipe | |
| dc.contributor.author | Lourenço, João | |
| dc.date.accessioned | 2025-07-25T10:23:05Z | |
| dc.date.available | 2025-07-25T10:23:05Z | |
| dc.date.issued | 2024-08 | |
| dc.description.abstract | Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and lower motor neurons. SOD1 mutations are the second most commonly found in familial and sporadic cases. We describe a patient with a homozygous pathogenic mutation in SOD1 gene that presented with a progressive cerebellar ataxia and ultimately developed a complex phenotype of cerebellar ataxia and motor neuron disease. The linkage between the cerebellum and ALS is shortly discussed. | |
| dc.identifier.citation | Cerebellum . 2024 Aug;23(4):1702-1704 | |
| dc.identifier.doi | 10.1007/s12311-023-01643-0 | |
| dc.identifier.other | 38049694 | |
| dc.identifier.uri | http://hdl.handle.net/10400.17/5116 | |
| dc.language.iso | en | |
| dc.peerreviewed | yes | |
| dc.publisher | Springerlink | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ | |
| dc.subject | Amyotrophic lateral sclerosis | |
| dc.subject | Cerebellar ataxia | |
| dc.subject | Cerebellum | |
| dc.subject | SOD1 | |
| dc.subject | HSJ NEU | |
| dc.title | Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia. | |
| dc.type | text | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 1704 | |
| oaire.citation.issue | 4 | |
| oaire.citation.startPage | 1702 | |
| oaire.citation.volume | 23 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |