Article
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.
Human mutation - 1 Nov 2016
Harlalka Gaurav V, McEntagart Meriel E, Gupta Neerja, Skrzypiec Anna E, Mucha Mariusz W, Chioza Barry A, Simpson Michael A, Sreekantan-Nair Ajith, Pereira Anthony, Günther Sven, Jahic Amir, Modarres Hamid, Moore-Barton Heather, Trembath Richard C, Kabra Madhulika, Baple Emma L, Thakur Seema, Patton Michael A, Beetz Christian, Pawlak Robert, Crosby Andrew H
Abstract excerpt
Hereditary spastic paraplegias (HSPs) are genetically and clinically heterogeneous axonopathies primarily affecting upper motor neurons and, in complex forms, additional neurons. Here, we report two families with distinct recessive mutations in TFG, previously suggested to cause HSP based on findings in a single small family with complex HSP. The first carried a homozygous c.317G>A (p.R106H) variant and presented...
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