Article
Three novel mutations in 20 patients with hereditary spastic paraparesis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Sept 2018
Duz Mehmet Bugrahan, Dasdemir Selcuk, Kalayci Yigin Aysel, Akalin Mehmet Ali, Seven Mehmet
Abstract excerpt
Hereditary spastic paraparesis (HSP) constitutes both genetic and clinically heterogeneous group of upper motor neuron diseases. Half of the individuals with autosomal dominant (AD) HSP have mutations in SPAST, ATL1, and REEP1 genes. This study was conducted to elucidate the genetic etiology of patients with the pure type AD-HSP diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey....
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