RT Journal Article
SR Electronic
T1 Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 303
OP 307
DO 10.17712/nsj.2017.4.20170253
VO 22
IS 4
A1 Bhattacharjee, Shakya
A1 Beauchamp, Nicholas
A1 Murray, Brian E.
A1 Lynch, Timothy
YR 2017
UL http://nsj.org.sa/content/22/4/303.abstract
AB Autosomal recessive hereditary spastic paraparesis is rare.We present 4 patients with slowly progressive predominantly lower limb spasticity and ataxia. Only one patient had family history of ataxia but without any underlying diagnosis. All of them proved negative for the mutation of Spinocerebelalr ataxia genes SCA 1,2,3 and 6. All had mutation in the SPG 7 gene suggestive of autosomal recessive hereditary spastic paraparesis. One of the heterozygous mutatnts showed a novel c1617delC, p(Val540fs) frameshift mutation in exon 12 of the SPG 7 gene. SPG7 mutation accounts for 1.5-7% of all the HSP but it is the cause of undiagnosed ataxia in 18.6% in a recent case series. SPG7 mutation should be remembered as an important cause of undiagnosed ataxia especially where next generation sequencing is not widely avaialbale or affordable.