Hereditary Ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndrome associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients, were homozygotes or compound heterozygotes for the c.1529C>T (p.Ala510Val) change. We screened a cohort of 895 Italian ataxic patients for the p.Ala510Val in order to define the prevalence and genotype - phenotype correlation of this variant.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Mancini, Cecilia;Giorgio, Elisa;Pradotto, Luca;Rubino, Elisa;Cavalieri, Simona;Di Gregorio, Eleonora;Ferrero, Marta;Pozzi, Elisa;Riberi, Evelise;Mauro, Alessandro;Zibetti, Maurizio;Sirchia, Fabio;Brusco, Alfredo
Last
2019

Abstract

Hereditary Ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndrome associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. Recent reports suggested mutations in the SPG7 gene, causing the most common form of autosomal recessive spastic paraplegia (MIM#607259), as a main cause of ataxias. The majority of described patients, were homozygotes or compound heterozygotes for the c.1529C>T (p.Ala510Val) change. We screened a cohort of 895 Italian ataxic patients for the p.Ala510Val in order to define the prevalence and genotype - phenotype correlation of this variant.
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https://onlinelibrary.wiley.com/doi/abs/10.1111/ene.13768
SCAR; Ala510Val; SPG7; hereditary ataxia; paraplegin; spastic ataxia
Mancini, Cecilia; Giorgio, Elisa; Rubegni, Anna; Pradotto, Luca; Bagnoli, Silvia; Rubino, Elisa; Prontera, Paolo; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Pozzi, Elisa; Riberi, Evelise; Ferrero, Patrizia; Nigro, Pasquale; Mauro, Alessandro; Zibetti, Maurizio; Tessa, Alessandra; Barghigiani, Melissa; Antenora, Antonella; Sirchia, Fabio; Piacentini, Silvia; Silvestri, Gabriella; De Michele, Giuseppe; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo Maria; Brusco, Alfredo
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/1678964
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