PT  - JOURNAL ARTICLE
AU  - Long, Ling
AU  - Cai, Xiaodong
AU  - Shu, Yaqing
AU  - Lu, Zhengqi
TI  - A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene
AID  - 10.17712/nsj.2017.2.20160522
DP  - 2017 Apr 01
TA  - Neurosciences Journal
PG  - 138--142
VI  - 22
IP  - 2
4099  - http://nsj.org.sa/content/22/2/138.short
4100  - http://nsj.org.sa/content/22/2/138.full
SO  - Neurosciences (Riyadh)2017 Apr 01; 22
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.