Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.

Nihan Hande AkcakayaBurçak Özeş AkMichael A GonzalezStefan ZüchnerEsra BattaloğluYeşim Parman

Published in: Neurologia i neurochirurgia polska (2020)

Our genetic studies confirmed that clinical analysis can be misleading when defining HSP subtypes. Genetic testing is an important tool for diagnosis and genetic counselling. However, in the majority of AR HSP cases, a genetic diagnosis is not possible.

Keyphrases

genome wide
copy number
end stage renal disease
heat shock protein
newly diagnosed
ejection fraction
heat stress
chronic kidney disease
gene expression
dna methylation
peritoneal dialysis
patient reported outcomes
hepatitis c virus
men who have sex with men
case control