A Rare Cause of Ataxia: SPG7 Mutation
Afra Çelik
, Banu Özen Barut, Rahsan İnan
University of Health Sciences Turkey, Kartal Dr. Lutfi Kirdar City Hospital, Clinic of Neurology, Istanbul, Turkey
Keywords: Hereditary spastic paraplegia, ataxia, SPG7
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.
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Externally peer-reviewed.
Surgical and Medical Practices: A.Ç., B.Ö.B., R.A.İ., Concept: A.Ç., B.Ö.B., Design: B.Ö.B., Data Collection or Processing: A.Ç., Analysis or Interpretation: A.Ç., B.Ö.B., Literature Search: A.Ç., B.Ö.B., Writing: A.Ç.
No conflict of interest was declared by the authors.
The authors declared that this study received no financial support.