Oct 30, 2010 - head movements which were interpreted as cervical dystonia. At that time a CT scan ...... congenital mirror movement without other neurological.
Movement Disorders Vol. 26, Suppl. 2, 2011, pp. S1–S385 2011 Movement Disorder Society
POSTER SESSION I MONDAY, JUNE 6, 2011 LOCATION: SOUTH BUILDING, LEVEL 800, HALL E All posters available for viewing: 9:00–18:00 Authors Present: 14:00–15:30
ATAXIA 1 Genetic, biochemical and genotoxicity investigations on Cuban families affected by spinocerebellar ataxia type 2 L.E. Almaguer-Mederos, R. Aguilera-Rodrı´guez, Y. Gonza´lez Zaldı´var, D. Almaguer-Gotay, D. Cuello-Almarales, A. A´lvarez Sosa, J. Laffita-Mesa, G. Sa´nchez Cruz, J. Montes-Brown, S. Mejı´as Brito, G. A´vila A´vila, Y. Va´zquez-Mojena, P. Zayas-Feria, A. Estupin˜a´n-Rodrı´guez, P. Bahr-Valca´rcel, J. Aguiar-Santiago, G. Auburger (Holguı´n, Cuba)
S1 and those involve a small number of patients, not always with molecular analysis confirmation. Methods: 122 patients with MJD were included in this study. Patients were evaluated for lower urinary tract symptoms. Genetic evaluation with the total number of CAG repetitions was also observed. Results: From the 122 patients evaluated, 17 (13.9%) presented lower urinary tract dysfunction, 10 of them women. The average age was 41.6 years. Urgency was found in 15 patients and incontinence at 9. The urodynamic study showed detrusor overactivity in 8 patients, areflexia in 1 and 4 with detrusor contractility. Bladder sensitivity was abnormal in 6, bladder capacity was decreased in 1, urine flow decreased in 13, postvoiding residue was greater than 100 ml in 9. We could not find sphincter dyssynergia. The average CAG repetition was higher in patients with abnormal detrusor contraction (89.9) than in patients with normal urodynamics (68.2). (p 5 0.03). There was no statistical significance when comparing the averages of replicates for people with and without urgency urinary incontinence (p 5 0.27 and p 5 0.5 respectively). Conclusions: The rate of lower urinary tract dysfunction in patients with MJD was around 14%. The urodynamic study showed predominance of detrusor overactivity and urgency as the most common symptom. We found an association between the total number of CAG repetitions and changes in detrusor contractility.
Objective: To characterize the relationship between genetic, physiologic factors and the clinical phenotype in Cuban SCA2 families. Background: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by a CAG repeat expansion mutation in the ATXN2 gene. Affected individuals show a remarkable variability of the clinical phenotype. Methods: Transversal and case-control designs were used. A huge sample of 1832 affected or at-risk individuals was analyzed. Age at onset, lifespan, disease duration, evolution time, ataxia score and disease progression rate were used as clinical markers. Molecular genetic studies were carried out by PCR, RFLP and gel electrophoresis. Oxidative stress markers and micronuclei frequency were evaluated. Results: Ranges for intermediate (25-31 CAGs), incomplete penetrance (32-36 CAGs) and full penetrance SCA2 alleles (‡37 CAGs) were defined. Age at onset and age at death estimations were obtained. The CAG repeat number in SCA2 expanded alleles was highly correlated to the clinical markers. There were significant correlations between normal alleles at SCA2, SCA3 and DRPLA loci, as well as the mt10398G polymorphism and the sex and evolution time, with the clinical markers. Normal alleles at SCA1, SCA6 and HLD2, as well as MTHFR (C677T) and GSTO1 (Ala140Asp) polymorphisms showed no correlation with clinical markers. Oxidative stress was confirmed in affected patients and presymptomatics, it was linked to somatic mosaicism and influenced by sex. Micronuclei frequency was increased in SCA2 patients. Conclusions: The CAG repeat number in SCA2 expanded alleles is the main determinant of the clinical phenotype, and its interaction with normal alleles at SCA2, SCA3 and DRPLA loci, mt10398G, sex and evolution time modify the clinical phenotype. Oxidative stress and genotoxicity are pathological mechanisms linked to SCA2. Antioxidant therapy could be potentially useful for SCA2 mutation carriers.
Objective: To study the clinical and electrophysiological characteristics of tremor in patients with SCA3. Background: Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal and extrapyramidal symptoms. Tremor (T) is a classical, but not frequent manifestation of SCA3 and there is a lack of detailed knowledge regarding its origin. Methods: Clinical charts of 72 genetically confirmed SCA3 patients, were reviewed looking for the presence of tremor. We enrolled six patients with T and confirmed SCA3. Four of them underwent an electrophysiological study including a polymyographic recording. We also performed a systematic review of all previous cases of SCA3 patients with T (n536) reported in the literature. Results: Rest T predominates (100% our series; 61% literature), typically Levodopa sensitive (67% our series; 61% literature) and is often associated to postural, orthostatic and/or action T. We identified and provide a comprehensive clinical and neurophysiological description of three T types: A) Levodopa sensitive rest, postural, and orthostatic proximal T of the four limbs, bilateral, sometimes axial, with slow frequencies (3,2 - 4,2 Hz) in patients with a marked parkinsonian phenotype; B) Rest, action T, of the upper limbs, distal unilateral, with higher frequencies (6,2 - 7,2 Hz) and C) Dystonic-cerebellar T of the upper limbs, with slow frequencies (3 - 4 Hz). Conclusions: Tremor in SCA3 expresses the associated degeneration of neurons in the nigrostriatal dopaminergic and the cerebellar pathways. Levodopa seems to be the most effective symptomatic treatment.
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Urinary symptoms and urodynamic findings in patients with Machado-Joseph disease A.F.A. Musegante, P.N.S. Almeida, A.L. Barboza, U. Barroso, Jr. (Salvador, Bahia, Brazil)
Cognitive deficits and spinocerebellar ataxia type 3: A model to study the cerebellar cognitive affective syndrome hypothesis? P. Braga-Neto, J.L. Pedroso, H. Alessi, A.C. Felı´cio, L.A. Dutra, P. Weisman, R.F. Santos-Galduroz, P.H.F. Bertolucci, A.A. Gabbai, O.G.P. Barsottini (Sa˜o Paulo, Brazil)
Objective: To evaluate the prevalence of clinical and urodynamic findings in the lower urinary tract of patients with Machado-Joseph’s disease (MJD). Background: Spinocerebellar ataxia type 3 or MJD is the most common dominantly-inherited spinocerebellar ataxia. It is determined by the expansion, more than 56 repetitions of the trinucleotide cytosine-adenine-guanine (CAG) at MJD1 gene from 14q32.1 chromosome. Lower urinary tract dysfunction has been reported in several ataxias, although not studied deeply. At MJD is estimated a 50% frequency of LUTS symptoms, but there is a limited number of studies
Objective: To evaluate cognition in 38 spinocerebellar ataxia type 3 (SCA3) patients compared to a control group and analyze its correlation with severity of ataxia. Background: Recent studies have revealed a more diffuse neurodegeneration process in SCA3, which may explain the non-motor symptoms, such as cognitive dysfunction in these patients. In addition, the thought that the cerebellum is purely a motor control device no longer applies, which provide support to the Cerebellar Cognitive Affective Syndrome (CCAS).
3 Tremor-spectrum in spinocerebellar ataxia type 3 (SCA3) C. Bonnet, E. Apartis, M. Anheim, A.P. Legrand, F. BaizabalCarvallo, A.M. Bonnet, A. Durr, M. Vidailhet (Prague, Czech Republic)
Movement Disorders, Vol. 26, Suppl. 2, 2011
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POSTER SESSION I, MONDAY, JUNE 6, 2011
Methods: We evaluated 38 patients with SCA3 and 31 healthy controls, matched for age and years in school, with the following neuropsychological battery: Mini-Mental State Examination (MMSE), Wechsler Adult Intelligence Scale (Digit Span, Similarities, Picture Completion, Symbol Search and Spatial Span), Rey-Osterrieth Complex Figure (ROCF), Wisconsin Card Sorting Test (WCST), Stroop Color Word Test (SCWT), Trail Making Test, Verbal Paired Associates, Verbal Fluency semantic and phonemic category, Hamilton Anxiety Scale (HAMA) and Beck Depression Inventory (BDI). Results: SCA3 group had a higher frequency of depression and anxiety symptoms than controls, according to the BDI (p
