Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias.

Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some symptoms and signs might help differentiate the SCAs. This study's aims were to evaluate the frequency of upward gaze palsy (UGP) and investigate its role in assisting in the clinical differentiation of SCAs. We included 419 patients with SCAs (248 with SCA3, 95 with SCA10, 38 with SCA2, 22 with SCA1, 12 with SCA7, and 4 with SCA6). This study compared UGP with other known markers of disease severity-age of onset, disease duration, SARA score, and size of CAG expansion, and also other semiologic features, as bulging eyes. This sign was significantly more prevalent in SCA3 (64.11%), compared with SCA10 (3.16%; p < 0.001) and other SCAs (SCA1, SCA2, SCA7-11.84%; p < 0.001). UGP showed very high sensibility ins SCA3 (92.9), although lacking of specificity (64.1%). The odds ratio (OR) of UGP were also very high, 23.52 (95% CI 12.38-44.69), and was significantly correlated with larger CAG expansions, age, and disease duration in SCA3 patients, but not with age of onset or severity of the ataxic syndrome. This study showed that UGP is highly suggestive of SCA3 and has high sensitivity for the differential diagnosis among SCAs, and it could be of great value for bedside semiologic tool.

Sleep disorders in spinocerebellar ataxia type 10.

As sleep disturbances have been reported in spinocerebellar ataxias (SCAs), including types SCA1, SCA2, SCA3, SCA6 and SCA13, identification and management of these disturbances can help minimise their impact on SCA patients' overall body functions and quality of life. To our knowledge, there are no studies that investigate sleep disturbances in SCA10. Therefore, the aim of this study was to assess sleep disturbances in patients with SCA10. Twenty-three SCA10 patients and 23 healthy controls were recruited. Patients were evaluated in terms of their demographic and clinical data, including disease severity (Scale for the Assessment and Rating of Ataxia, SARA) and excessive daytime sleepiness (Epworth Sleepiness Scale, ESS), and underwent polysomnography. SCA10 patients had longer rapid eye movement (REM) sleep (p = .04) and more REM arousals than controls (p< .0001). There was a correlation of REM sleep onset with the age of onset of symptoms (r = .459), and with disease duration (r = -.4305). There also was correlation between the respiratory disturbance index (RDI) and SARA (r = -.4013), and a strong indirect correlation between arousal index and age at onset of symptoms (r = -.5756). In conclusion, SCA10 patients had sleep abnormalities that included more REM arousals and higher RDI than controls. Our SCA10 patients had sleep disorders related to shorter disease duration and lower severity of ataxia, in a pattern similar to that of other neurodegenerative diseases.

Patients with Cervical Dystonia Demonstrated Decreased Cognitive Abilities and Visual Planning Compared to Controls.

BACKGROUND: Cervical dystonia (CD) involves clinical and motor manifestations, and visual and cognitive dysfunctions may also be frequent. OBJECTIVE: To evaluate functional vision, visual attention, and cognitive aspects in patients with CD compared with a control group. METHODS: Fifty patients with CD were assessed using the Useful Field of View Test (UFOV), the Mini Mental State Examination (MMSE), and the Trail Making Tests (TMT-A and TMT-B), and compared with an identical number of health controls matched by sex, age, and educational level. RESULTS: No differences were seen between the groups in terms of MMSE score (P = 0.481), but the CD patient group had poorer scores for the TMA-A (P = 0.004) and TMT-B (P = 0.004). For the UFOV subtests, a decrease was found for visual processing speed (P < 0.001), divided attention (P < 0.001), and selective attention (P = 0.001), as well as higher frequency in the categories with higher risk index in the UFOV test (P < 0.001). CONCLUSION: Patients with CD may exhibit decreased functional vision and visual attention, as well as higher risk in performing complex activities.

Frequency of obsessive and compulsive symptoms in patients with blepharospasm and hemifacial spasm.

BACKGROUND: Blepharospasm (BS) is a form of central focal dystonia recently associated with psychiatric disorders, particularly obsessive and compulsive symptoms. Hemifacial spasm (HFS) represents a focal myoclonus with peripheral origin in the facial nerve. OBJECTIVE: To determine the frequency of obsessive and compulsive symptoms in patients with BS in comparison with patients with HFS. METHODS: 30 patients from each group (BS and HFS) followed by the botulinum toxin clinic at the HC-UFPR were evaluated using a structured interview based on the DSM-IV criteria and the Yale-Brown scale. Results were compared by the mean two-tailed t test. RESULTS: We found obsessive or compulsive symptoms in 20 (66.6%) patients with BE and 21 (70%) with HFS. Yale-Brown scale scores for each group were higher among BS patients; however, diferences were not statisticaly significant. CONCLUSION: Our study did not show a significant diference in the comparison of the prevalence of obsessive and compulsive symptoms among patients with BS and HFS.

Movement disorders secondary to long-term treatment with cyclosporine A.

OBJECTIVE: To analyze the prevalence, severity and functional interference of movement disorders (MD) secondary to chronic use of cyclosporine A (CsA). METHOD: We conducted a cross-sectional study of 60 patients (58.3% male) with mean age 23.1 (3-75) years, followed at the Bone Marrow Transplantation Service of the Hospital de Clínicas of the Federal University of Paraná, Brazil, taking CsA for at least six months. Our protocol included clinical data, assessment of functional interference of symptoms and neurological examination including observation and grading of MD. RESULTS: Eight (13.3%) subjects reported the presence of tremor at the moment of interview and 29 (48.3%) recalled this symptom at some point during treatment. Neurological examination identified 14 (23.3%) subjects with MD: upper limb symmetric action tremor in 13 (21.6%) and parkinsonism (rigidity and bradykinesia) in 1 (1.7%). No other MD was detected. The mean scores indicated mild clinical signs in all cases. Symptoms were considered subjectively mild with no functional interference. CONCLUSION: Almost one quarter of patients using CsA chronically presented MD, almost always mild and transitory action tremor, with minimal interference on daily living activities, not requiring any form of intervention in the majority of cases.

Frequency of obsessive and compulsive symptoms in patients with blepharospasm and hemifacial spasm

FUNDAMENTOS: Blefaroespasmo (BE) é uma forma de distonia focal central recentemente relacionada a desordens psiquiátricas, particularmente sintomas obsessivos e compulsivos. Espasmo hemifacial (EHF) representa uma forma de mioclonia com origem periférica, no nervo facial. OBJETIVO: Determinar a frequência de sintomas obsessivos e compulsivos em pacientes com BE em comparação com pacientes com EHF. MÉTODO: Foram avaliados 30 pacientes de cada grupo acompanhados no ambulatório de toxina botulínica do HC-UFPR, através de entrevista estruturada baseada nos critérios do DSM-IV e pela escala de Yale-Brown. Os resultados foram comparados pela média do teste de t de Student bicaudal. RESULTADOS: Observaram-se sintomas obsessivos ou compulsivos em 20 (66,6%) pacientes com BE e 21 (70%) pacientes com EHF. Os escores da escala de Yale-Brown em cada grupo foram maiores entre aqueles com BE, porém, as diferenças não foram estatisticamente significativas. CONCLUSÃO: Nosso estudo não evidenciou diferença significativa na comparação de prevalência de sintomas obsessivos e compulsivos entre pacientes com BE e EHF.

Movement disorders secondary to long-term treatment with cyclosporine A

OBJETIVO: Analisar a prevalência, gravidade e interferência funcional de transtornos do movimento (TM) secundários ao uso crônico de ciclosporina A (CsA). MÉTODO: Realizamos um estudo transversal em 60 pacientes (58.3% do sexo masculino) com idade média de 23.1 (3-75) anos, acompanhados pelo Serviço de Transplante de Medula Óssea do Hospital de Clínicas da Universidade Federal do Paraná, usando CsA por pelo menos seis meses. A avaliação incluiu dados clínicos, interferência funcional de possíveis sintomas e exame neurológico incluindo observação e graduação de TM. RESULTADOS: Oito (13.3%) entrevistados relataram tremor no momento da entrevista e 29 (48.3%) em alguma fase do tratamento. O exame neurológico identificou 14 (23.3%) pacientes com TM: 13 (21.6%) tremor de ação simétrico de membros superiores e em 1 (1.7%) parkinsonismo (rigidez e bradicinesia). Nenhum outro TM foi detectado. Os escores médios indicaram quadros leves em todos os casos. Os sintomas foram também considerados subjetivamente leves e sem interferência funcional. CONCLUSÃO: Quase um quarto dos pacientes usando CsA cronicamente apresenta TM, quase sempre tremor de ação leve e transitório, interferindo pouco funcionalmente, não requerendo intervenção na maioria dos casos.

Reversible posterior leucoencephalopathy syndrome associated with bone marrow transplantation

Reversible posterior leucoencephalopathy syndrome (RPLS) has previously been described in patients who have renal insufficiency, eclampsia, hypertensive encephalopathy and patients receiving immunosuppressive therapy. The mechanism by which immunosuppressive agents can cause this syndrome is not clear, but it is probably related with cytotoxic effects of these agents on the vascular endothelium. We report eight patients who received cyclosporine A (CSA) after allogeneic bone marrow transplantation or as treatment for severe aplastic anemia (SSA) who developed posterior leucoencephalopathy. The most common signs and symptoms were seizures and headache. Neurological dysfunction occurred preceded by or concomitant with high blood pressure and some degree of acute renal failure in six patients. Computerized tomography studies showed low-density white matter lesions involving the posterior areas of cerebral hemispheres. Symptoms and neuroimaging abnormalities were reversible and improvement occurred in all patients when given lower doses of CSA or when the drug was withdrawn. RPLS may be considered an expression of CSA neurotoxicity