A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.

Ling Long,Xiaodong Cai,Yaqing Shu,Zhengqi Lu

doi:10.17712/nsj.2017.2.20160522

Abstract

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.

Highlights

Gerstmann-Sträussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease
Cerebellar ataxia can present with many hereditary neurological diseases, including spinocerebellar ataxia, friedreich’s ataxia, episodic ataxia, and ataxia telangiectasia
We identified a heterozygous mutation: prion protein gene (PRNP) Exon[2] c.305C>T p.(Pro102Leu) (Figure 3), which is present in Gerstmann-Sträussler-Scheinker syndrome (GSS)

Summary

Introduction

Gerstmann-Sträussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Cerebellar ataxia can present with many hereditary neurological diseases, including spinocerebellar ataxia, friedreich’s ataxia, episodic ataxia, and ataxia telangiectasia. Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare hereditary disease that can cause ataxia, it is not well known among neurologists and is, misdiagnosed.

Results

Conclusion