ABSTRACT
Objective@#To improve the clinician′s recognition of Gerstmann-Sträussler-Scheinker syndrome (GSS).@*Methods@#The detailed clinical information, neuropsychological examination, cerebrospinal fluid examination, imaging characteristics, electroencephalogram examination and gene detection were analyzed in a case of GSS similar to Creutzfeldt-Jakob disease (CJD) in symptomatology. The differences between the two different prion diseases were compared in combination with the literature review.@*Results@#The patient is a 62-year-old woman, with cerebellar ataxia as the first symptom, followed by rapid dementia, accompanied by pyramidal and extrapyramidal signs. Magnetic resonance imaging showed hyper-intense signal in diffusion weighted imaging in caudatum and cortical ribboning, and protein 14-3-3 was negative. PRNP gene analysis showed P102L gene mutation.@*Conclusions@#The typical clinical manifestation of GSS is hereditary ataxia followed by cognitive decline of varying severity. Detection of PRNP plays an important role in the diagnosis of GSS.
ABSTRACT
Objective To improve the clinician's recognition of Gerstmann-Str(a)ussler-Scheinker syndrome (GSS).Methods The detailed clinical information,neuropsychological examination,cerebrospinal fluid examination,imaging characteristics,electroencephalogram examination and gene detection were analyzed in a case of GSS similar to Creutzfeldt-Jakob disease (CJD) in symptomatology.The differences between the two different prion diseases were compared in combination with the literature review.Results The patient is a 62-year-old woman,with cerebellar ataxia as the first symptom,followed by rapid dementia,accompanied by pyramidal and extrapyramidal signs.Magnetic resonance imaging showed hyper-intense signal in diffusion weighted imaging in caudatum and cortical ribboning,and protein 14-3-3was negative.PRNP gene analysis showed P102L gene mutation.Conclusions The typical clinical manifestation of GSS is hereditary ataxia followed by cognitive decline of varying severity.Detection of PRNP plays an important role in the diagnosis of GSS.
ABSTRACT
Objective To investigate the clinical features,polysomnography,imaging examination,genetic analysis and laboratory examination of eight patients with familial fatal insomnia (FFI).Methods The clinical data,neuropsychological examination,results of cerebrospinal fluid analysis,imaging examination and polysomnography of eight patients with FFI in Xuanwu Hospital,Capital Medical University from 2009 to 2018 were retrospectively analyzed and summarized.Results Among the eight FFI patients,there were 3 males and 5 females,the onset age being (49.8+14.3) years (19 to 64 years) and the course of disease being eight to 18 months.D178N mutation in the PRNP gene of chromosome 20 and 129 amino acid polymorphisms of M/M were found in genetic examination in all the eight patients,of which five patients had family history.All the patients had sleep disorders,sleep-related involuntary movement,sleep-related dyspnea,laryngeal stridor.All the patients showed rapid progressive dementia with or without symptoms or signs of psychosis,ataxia,pyramidal and extrapyramidal.All the eight patients had progressive sympathetic symptoms,including hypertension,sweating,tachycardia,irregular breathing,and dysarthria.Cerebrospinal fluid 14-3-3 protein was found positive in one patient,and negative in seven patients.Electroencephalograph showed diffuse slow wave and non periodic synchronous discharge.Single-photon emission computed tomography or 18F fluorodeoxyglucose positron emission tomography showed decreased thalamic glucose metabolism in three patients.Seven patients showed decreased total sleep time,sleep awakening cycle disorder,especially the reduction or loss of rapid eye movement,laryngeal stridor and involuntary movement in polysomnography.Conclusions FFI is characterized by sleep disorder,sleep-related involuntary movement,dyspnea,laryngosis,rapid progressive dementia and sympathetic symptoms.The family history,polysomnography and positron emission tomography are helpful for the diagnosis of FFI.PRNP gene detection can confirm the diagnosis of FFI.