title: TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum.
abstract: Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons. We describe two siblings affected with a recessive form of movement disorder. Whole-exome sequencing revealed a homozygous missense mutation c.64 C>T (p.Arg22Trp) in TFG as cause of the disorder. Comparison of the phenotype of the patients of this study, with that reported previously, revealed differences in the severity of the disorder as well as new clinical findings. These include presence of clonus, undeveloped speech, and sleep disturbances. Our findings extend the phenotypic spectrum associated with the TFG mutations in HSP.
authors.affiliation: School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.
authors.forename: Huma
authors.initials: H
authors.lastname: Tariq
authors.affiliation: School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan. naz.sbs@pu.edu.pk.
authors.forename: Sadaf
authors.initials: S
authors.lastname: Naz
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D033921:Vesicular Transport Proteins
chemical_list: D011506:Proteins; C096163:TFG protein, human; D033921:Vesicular Transport Proteins
keywords: Pakistan; Reverse phenotyping; SPG57; Spastic paraplegia; TFG