Hereditary spastic paraplegia: clinical genetic study of 15 families
A Orlacchio, T Kawarai, A Totaro, A Errico… - Archives of …, 2004 - jamanetwork.com
Background Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused
by mutations in theSPG4gene, which encodes a new member of the AAA (adenosine
triphosphatasesassociated with diverse cellularactivities) protein family (spastin).
Accumulation of genotype-phenotype correlation is important for better understanding
ofSPG4-linked hereditary spastic paraplegia. Objectives To perform a clinical and genetic
study of families with ADHSP and to perform the functional analysis of the founder mutation …
by mutations in theSPG4gene, which encodes a new member of the AAA (adenosine
triphosphatasesassociated with diverse cellularactivities) protein family (spastin).
Accumulation of genotype-phenotype correlation is important for better understanding
ofSPG4-linked hereditary spastic paraplegia. Objectives To perform a clinical and genetic
study of families with ADHSP and to perform the functional analysis of the founder mutation …