RT Journal Article
SR Electronic
T1 A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 138
OP 142
DO 10.17712/nsj.2017.2.20160522
VO 22
IS 2
A1 Long, Ling
A1 Cai, Xiaodong
A1 Shu, Yaqing
A1 Lu, Zhengqi
YR 2017
UL http://nsj.org.sa/content/22/2/138.abstract
AB Gerstmann-Sträussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4–6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia. However, GSS is an uncommon cause of hereditary cerebellar ataxia that might be overlooked because many neurologists are unfamiliar with it. To avoid misdiagnosis in the patients with hereditary cerebellar ataxia, GSS should be taken into account if other causes are absent, especially in patients that have accompanying psychiatric symptoms and a short survival time.