title: [Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation].
abstract: OBJECTIVE
  Spinocerebellar ataxias type 1 (SCA1) and type 2 (SCA2) belong to neurodegenerative disorders of autosomal dominant inheritance, genetically and clinically heterogeneous, caused by the expansion of CAG trinucleotides. Trunk and limb ataxia, dysarthria, dysphagia, gaze palsy, sensory and motor axonal neuropathy are the dominant features in both entities. The aim of the study was to evaluate the differences between genotype and phenotype based on clinical and electrophysiological assessment of the visual, auditory pathways, and EEG alterations in comparison with the cerebellar and brain atrophy in MRI.
  
  
  METHODS
  44 patients with SCA1 and 24 cases with SCA2 confirmed molecularly were examined neurologically and using the International Cooperative Ataxia Rating Scale (ICARS). A correlation of clinical symptoms and signs, and CAG repeat numbers with EEG, visual (VEP) and brainstem auditory (BAEP) evoked potentials, and MRI alterations were evaluated.
  
  
  RESULTS
  A statistically significant negative correlation between the age of disease onset and number of CAG repeats in both types of SCA was found. Examined patients with SCA2 were younger, with longer disease duration and more pronounced cerebellar and brain atrophy in MRI. We found a significant correlation between ICARS and CAG repeats in this group. The dysphagia, pyramidal tract involvement and depressive reaction were significantly frequent in SCA1 patients. However in SCA2 patients, the peripheral nerve damage and extrapyramidal signs were more prominent. The amplitude of P100 visual evoked potentials was significantly lower in SCA1 patients and negatively correlated with CAG repeats.
  
  
  CONCLUSIONS
  These results provide further evidence for the phenotypic differences of genetically defined SCA1 and SCA2 patients, expressed by more frequent involvement of the pyramidal tract and depression reaction in SCA1, in contrast to peripheral nerve involvement and extrapyramidal signs in the clinical feature of SCA2 phenotype. Furthermore, atrophy of the brain and cerebellum revealed in MRI was more pronounced than electrophysiological functional alterations, especially in SCA2. The decreased amplitude of P100 VEP in SCA1 patients was the only electrophysiological parameter differentiating between both groups of patients.
authors.affiliation: Zakład Neurofizjologii Klinicznej, Instytut Psychiatrii i Neurologii, ul. Sobieskiego 9, 02-957 Warszawa. rakowicz@ipin.edu.pl
authors.forename: Maria
authors.initials: M
authors.lastname: Rakowicz
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Zdzienicka
authors.forename: Renata
authors.initials: R
authors.lastname: Poniatowska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Waliniowska
authors.forename: Anna
authors.initials: A
authors.lastname: Sułek
authors.forename: Teresa
authors.initials: T
authors.lastname: Jakubowska
authors.forename: Krystyna
authors.initials: K
authors.lastname: Niedzielska
authors.forename: Rafał
authors.initials: R
authors.lastname: Rola
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Wierzbicka
authors.forename: Dorota
authors.initials: D
authors.lastname: Hoffman-Zacharska
authors.forename: Czesław
authors.initials: C
authors.lastname: Głazowski
authors.forename: Tomasz
authors.initials: T
authors.lastname: Jakubczyk
authors.forename: Maria
authors.initials: M
authors.lastname: Niewiadomska
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D003072:Cognition Disorders / Q000175:diagnosis / Q000453:epidemiology; D003863:Depression / Q000175:diagnosis / Q000453:epidemiology; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D012720:Severity of Illness Index; D020754:Spinocerebellar Ataxias / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011795:Surveys and Questionnaires; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*