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SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016 See this aricle in Pubmed Article Abstract These results strongly suggest that variants affecting the function of SPG7 are the fourth and most common form of recessive ataxia in FC patients. Thus, we propose that SPG7 mutations explain a significant proportion of FC spastic ataxia cases and that this gene should be considered in unresolved patients.

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(click to filter results - removes previous filter) ataxia ataxia,cerebellar bladder dysfunction cerebellar atrophy,primary exome sequencing gait disorder gene mutation imbalance MRI,abnormal next-generation sequencing paraparesis,familial spastic paraparesis,spastic progressive neurologic disorder pyramidal tract pyramidal tract dysfunction spastic ataxia spastic paraplegia,type 7 spasticity urinary urgency

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