A Rare Cause of Ataxia: SPG7 Mutation
Open Access
- 30 September 2022
- journal article
- research article
- Published by Turk Noroloji Dernegi in Türk Nöroloi Dergisi
- Vol. 28 (3), 188-190
- https://doi.org/10.4274/tnd.2021.22804
Abstract
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.Keywords
This publication has 19 references indexed in Scilit:
- Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 geneNeurosciences, 2017
- Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disordersEuropean Journal of Human Genetics, 2017
- SPG7 mutations are a common cause of undiagnosed ataxiaNeurology, 2015
- Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceBrain, 2014
- The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence StudiesNeuroepidemiology, 2014
- Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyBrain, 2012
- Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritanceJournal of the Neurological Sciences, 2012
- Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 geneZeitschrift für Neurologie, 2008
- The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in MitochondriaCell, 2005
- Advances in the hereditary spastic paraplegiasExperimental Neurology, 2003