WebJan 29, 2015 · PNPLA6 mutations cause a broad neurodegenerative spectrum, including disorders such as spastic paraplegia type 39, GHS, spastic ataxia, Oliver-McFarlane syndrome, Laurence-Moon syndrome and ... WebPNPLA6-related disorders feature combinations of overlapping signs and symptoms, including ataxia, muscle stiffness (spasticity), abnormally fast (brisk) reflexes, reduced …

Moving Beyond Syndromic Classifications in Neurodegenerative …

Reported across the PNPLA6 disorders phenotypic spectrum [Rainier et al 2008, S… www.ncbi.nlm.nih.gov WebSearch worldwide, life-sciences literature Search. Advanced Search has gigi hadid shown her baby in public

PNPLA6 ‐Related Disorder with Levodopa‐Responsive Parkinsonism

WebMar 19, 2015 · A patient from a fifth family who did not have chorioretinopathy also carried biallelic PNPLA6 mutations. The disorder in most patients was characterized by the triad … WebThe National Library of Medicine (NLM), on the NIH campus in Bethesda, Maryland, is the world's largest biomedical library and the developer of electronic information services that delivers data to millions of scientists, health professionals and members of the public around the globe, every day. WebOct 31, 2014 · The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene in four index patients. Here we present two novel unrelated patients with BNS, where … has giovanni pernice got any children