First symptom and initial diagnosis in sporadic CJD patients in Germany

Autor: Inga Zerr, Anna Krasnianski, Hans A. Kretzschmar, Judith Kaune, Klaus Jung
Rok vydání: 2014
Předmět:
Male
Pediatrics
Pathology
Neurology
Photophobia
Disease
Creutzfeldt-Jakob Syndrome
Polymorphism (computer science)
Germany
Genotype
Medicine
Young adult
Child
etiology [Cerebellar Diseases]
epidemiology [Vision Disorders]
Diagnostic Techniques and Procedures
Neuroradiology
physiopathology [Creutzfeldt-Jakob Syndrome]
Aged
80 and over
Mental Disorders
genetics [Creutzfeldt-Jakob Syndrome]
Middle Aged
Female
medicine.symptom
etiology [Mental Disorders]
Adult
medicine.medical_specialty
Adolescent
psychology [Dementia]
Prions
Vision Disorders
diagnosis [Creutzfeldt-Jakob Syndrome]
psychology [Creutzfeldt-Jakob Syndrome]
statistics & numerical data [Diagnostic Errors]
diagnosis [Mental Disorders]
epidemiology [Dementia]
Polymorphism
Single Nucleotide
Diagnosis
Differential
Young Adult
complications [Creutzfeldt-Jakob Syndrome]
Cerebellar Diseases
mental disorders
Humans
Dementia
ddc:610
Diagnostic Errors
Aged
diagnosis [Cerebellar Diseases]
genetics [Prions]
business.industry
medicine.disease
epidemiology [Mental Disorders]
diagnosis [Dementia]
etiology [Vision Disorders]
nervous system diseases
epidemiology [Cerebellar Diseases]
Neurology (clinical)
etiology [Dementia]
diagnosis [Vision Disorders]
business
Zdroj: Journal of neurology 261(9), 1811-1817 (2014). doi:10.1007/s00415-014-7410-z
ISSN: 1432-1459
0340-5354
DOI: 10.1007/s00415-014-7410-z
Popis: To describe the first symptom/sign and first diagnosis in patients with sporadic Creutzfeldt-Jakob disease (sCJD) in Germany with respect to M129V polymorphism of the prion protein gene and prion protein type. Data on the first symptom/sign and first diagnosis were studied in 492 sCJD patients with probable and definite sCJD and known M129V polymorphism. Unspecific prodromal symptoms such as headache, fatigue, sleep disturbances, 'peculiar feeling in the head', photophobia or weight loss were found in about 10 % of the patients. No prodromal symptoms were found in MV2 and VV1 patients. Dementia was the most common first symptom (37 %) followed by cerebellar (34 %), visual (15 %), and psychiatric disturbances (14 %). The CJD diagnosis was the first diagnosis in only 35 % of the patients (in 42 % of MM, 28 % of MV, and 24.5 % of VV patients). We provide a detailed analysis on clinical presentation and first diagnosis in a large group of patients with sCJD with respect to M129V genotype and prion protein type. These data emphasize the importance of knowledge about CJD and especially rare CJD types among physicians of different specializations. Our findings may improve early recognition of atypical CJD forms.
Databáze: OpenAIRE
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