The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis

(2011) David J. Szmulewicz et al.   Annals of the New York Academy of Sciences

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

(2011) NA Schlipf et al.   CLINICAL GENETICS

Pharmacotherapy of vestibular and ocular motor disorders, including nystagmus

(2011) Michael Strupp et al.   JOURNAL OF NEUROLOGY

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

(2008) F. Brugman et al.   NEUROLOGY

Head impulse test in unilateral vestibular loss: Vestibulo-ocular reflex and catch-up saccades

(2008) K. P. Weber et al.   NEUROLOGY