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AIMS: Spinocerebellar Ataxia Type 3 (SCA3) is a rare genetic ataxia that impacts the entire brain and is characterized as a neurodegenerative disorder affecting the neural network. This study explores how alterations in the functional hierarchy, connectivity, and structural changes within specific brain regions significantly contribute to the heterogeneity of symptom manifestations in patients with SCA3. METHODS: We prospectively recruited 51 patients with SCA3 and 59 age-and sex-matched healthy controls. All participants underwent comprehensive multimodal neuroimaging and clinical assessments. In SCA3 patients, an innovative approach utilizing gradients in resting-state functional connectivity (FC) was employed to examine atypical patterns of hierarchical processing topology from sensorimotor to supramodal regions in the cerebellum and cerebrum. Coupling analyses of abnormal FC and structural connectivity among regions of interest (ROIs) in the brain were also performed to characterize connectivity alterations. Additionally, relationships between quantitative ROI values and clinical variables were explored. RESULTS: Patients with SCA3 exhibited either compression or expansion within the primary sensorimotor-to-supramodal gradient through four distinct calculation methods, along with disruptions in FC and structural connectivity coupling. A comprehensive correlation was identified between the altered gradients and the clinical manifestations observed in patients. Notably, altered fractional anisotropy values were not significantly correlated with clinical variables. CONCLUSION: Abnormal gradients and connectivity in the cerebellar and cerebral cortices in SCA3 patients may contribute to disrupted motor-to-supramodal functions. Moreover, these findings support the potential utility of FCG analysis as a biomarker for diagnosing SCA3 and assessing treatment efficacy.
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Doença de Machado-Joseph , Imageamento por Ressonância Magnética , Humanos , Feminino , Masculino , Doença de Machado-Joseph/fisiopatologia , Doença de Machado-Joseph/diagnóstico por imagem , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/patologia , Pessoa de Meia-Idade , Adulto , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Encéfalo/patologia , Vias Neurais/fisiopatologia , Vias Neurais/diagnóstico por imagem , Estudos Prospectivos , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/fisiopatologia , Rede Nervosa/patologia , Imagem de Tensor de Difusão/métodosRESUMO
BACKGROUND: Many neuroscience and neurology studies have forced a reconsideration of the traditional motor-related scope of cerebellar function, which has now expanded to include various cognitive functions. Spinocerebellar ataxia type 3 (SCA3; the most common hereditary ataxia) is neuropathologically characterized by cerebellar atrophy and frequently presents with cognitive impairment. OBJECTIVE: To characterize cognitive impairment in SCA3 and investigate the cerebellum-cognition associations. METHODS: This prospective, cross-sectional cohort study recruited 126 SCA3 patients and 41 healthy control individuals (HCs). Participants underwent a brain 3D T1-weighted images as well as neuropsychological tests. Voxel-based morphometry (VBM) and region of interest (ROI) approaches were performed on the 3D T1-weighted images. CERES was used to automatically segment cerebellums. Patients were grouped into cognitively impaired (CI) and cognitively preserved (CP), and clinical and MRI parameters were compared. Multivariable regression models were fitted to examine associations between cerebellar microstructural alterations and cognitive domain impairments. RESULTS: Compared to HCs, SCA3 patients showed cognitive domain impairments in information processing speed, verbal memory, executive function, and visuospatial perception. Between CI and CP subgroups, the CI subgroup was older and had lower education, as well as higher severity scores. VBM and ROI analyses revealed volume loss in cerebellar bilateral lobule VI, right lobule Crus I, and right lobule IV of the CI subgroup, and all these cerebellar lobules were associated with the above cognitive domain impairments. CONCLUSIONS: Our findings demonstrate the multiple cognitive domain impairments in SCA3 patients and indicate the responsible cerebellar lobules for the impaired cognitive domain(s).
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Disfunção Cognitiva , Doença de Machado-Joseph , Humanos , Cerebelo/diagnóstico por imagem , Disfunção Cognitiva/diagnóstico por imagem , Disfunção Cognitiva/etiologia , Estudos Transversais , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Estudos ProspectivosRESUMO
Spinocerebellar ataxia type 3 (SCA3) is a form of autosomal dominant cerebellar ataxia with a wide range of clinical manifestations, including ataxia and pyramidal and extrapyramidal signs. A few SCA3 patients have been noticed to be predisposed to the development of inclusion body myositis. It is still unknown whether muscle can be primarily involved in the pathogenesis of SCA3. This study reported an SCA3 family in which the index patient initially presented with parkinsonism, sensory ataxia, and distal myopathy but the absence of cerebellar and pyramidal symptoms. The clinical and electrophysiological studies implied a possible combination of distal myopathy and sensory-motor neuropathy or neuronopathy. MRI muscle showed selective fat infiltration and absence of denervated edema-like changes, indicating the distal muscle weakness had a myopathic origin. Muscle pathology showed the myopathic involvement, besides neurogenic involvement, characterized by chronic myopathic changes with multiple autophagic vacuoles. Genetic screening revealed expanded CAG of 61 repeats in the ATXN3 gene, which showed co-segregation in the family. Besides the neurogenic origin, the myopathic origin may be partly attributed to the limb weakness of SCA3 patients, which expands the spectrum of the clinical manifestation of SCA3.
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Miopatias Distais , Doença de Machado-Joseph , Doenças Musculares , Humanos , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/genética , Fenótipo , AtaxiaRESUMO
BACKGROUND: Disease severity in spinocerebellar ataxia type 3 (SCA3) is commonly defined by the Scale for the Assessment and Rating of Ataxia (SARA) sum score, but little is known about the contributions and progression patterns of individual items. OBJECTIVES: To investigate the temporal dynamics of SARA item scores in SCA3 patients and evaluate if clinical and demographic factors are differentially associated with evolution of axial and appendicular ataxia. METHODS: In a prospective, multinational cohort study involving 11 European and 2 US sites, SARA scores were determined longitudinally in 223 SCA3 patients with a follow-up assessment after 1 year. RESULTS: An increase in SARA score from 10 to 20 points was mainly driven by axial and speech items, with a markedly smaller contribution of appendicular items. Finger chase and nose-finger test scores not only showed the lowest variability at baseline, but also the least deterioration at follow-up. Compared with the full set of SARA items, omission of both tests would result in lower sample size requirements for therapeutic trials. Sex was associated with change in SARA sum score and appendicular, but not axial, subscore, with a significantly faster progression in men. Despite considerable interindividual variability, the average annual progression rate of SARA score was approximately three times higher in subjects with a disease duration over 10 years than in those within 10 years from onset. CONCLUSION: Our findings provide evidence for a difference in temporal dynamics between axial and appendicular ataxia in SCA3 patients, which will help inform the design of clinical trials and development of new (etiology-specific) outcome measures. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Doença de Machado-Joseph , Ataxia , Estudos de Coortes , Humanos , Doença de Machado-Joseph/complicações , Masculino , Estudos Prospectivos , Índice de Gravidade de DoençaRESUMO
BACKGROUND: The number of trinucleotide CAG repeats is inversely correlated with the age at onset (AAO) of motor symptoms in individuals with Spinocerebellar Ataxia type 3 (SCA 3) and may be responsible for 50%-60% of the variability in AAO. Drawing from a social determinants of health model, we sought to determine if educational attainment further contributes to the AAO and motor symptom progression of SCA 3. METHODS: We performed a retrospective chart review in which twenty individuals met criteria for inclusion and had been seen by an ataxia specialist at our hospital between January 2005 and July 2019. AAO of motor symptoms and Scale for Assessment and Rating of Ataxia (SARA) scores were used as primary outcome measures. RESULTS: Using a linear regression, we found that having greater CAG repeat length and greater than 16 years of education results in an earlier AAO. The importance of the CAG repeat length on AAO, however, is greater amongst individuals with lower education. Using a linear mixed model evaluating SARA score over time with AAO, we found that less than 16 years of education is associated with faster progression of the disease. CONCLUSION: In our group of SCA 3 patients, level of education correlated with both the AAO and SARA scores. Though our findings need to be confirmed with a larger cohort, our study suggests that level of education can have a strong influence on health outcomes in SCA 3 and possibly other groups of patients with ataxia.
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Doença de Machado-Joseph , Ataxias Espinocerebelares , Idade de Início , Escolaridade , Humanos , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/genética , Estudos Retrospectivos , Ataxias Espinocerebelares/complicações , Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/genéticaRESUMO
BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.
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Apraxias , Blefarospasmo , Doença de Machado-Joseph , Apraxias/etiologia , Blefarospasmo/complicações , Pálpebras , Humanos , Doença de Machado-Joseph/complicaçõesRESUMO
Depressive state is a common complication of spinocerebellar ataxia type 3 (SCA3). To the best of our knowledge, cases of SCA3 presenting with cenesthopathy have not been described. Here, we present a case of a severe depressive state with cenesthopathy and delusion in a young Japanese man with SCA3. A 43-year-old Japanese man with SCA3 developed a severe depressive state with associated cenesthopathy and delusion. He was treated with escitalopram (10 mg/day) and olanzapine (2.5 mg/day). Computed tomography showed atrophy of the cerebellum, bilateral superior cerebellar peduncle, and tegmentum of the pons. Single-photon emission computed tomography demonstrated reduced blood flow in the cerebellum, vermis, and brainstem. After 8 weeks, his depressive state and delusion improved; however, his cenesthopathy persisted. We encountered a case of a severe depressive state with cenesthopathy and delusion in a young Japanese man with SCA3. This case supports previous studies that the cerebellum could have a role beyond motor functions.
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Doença de Machado-Joseph , Masculino , Humanos , Adulto , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/diagnóstico por imagem , Doença de Machado-Joseph/tratamento farmacológico , Olanzapina/uso terapêutico , Delusões/diagnóstico por imagem , Delusões/tratamento farmacológico , Delusões/etiologia , Japão , Cerebelo/diagnóstico por imagemAssuntos
Cerebelo/diagnóstico por imagem , Doença de Machado-Joseph/complicações , Retina/diagnóstico por imagem , Doenças Retinianas/etiologia , Tomografia de Coerência Óptica/métodos , Humanos , Doença de Machado-Joseph/diagnóstico , Masculino , Pessoa de Meia-Idade , Doenças Retinianas/diagnósticoRESUMO
BACKGROUND: Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographic and clinical characteristics between SCA3 patients with and without each type of abnormal eye movement, and to explore the correlation between abnormal eye movements and the severity of ataxia. METHODS: Seventy-four patients with SCA3 were enrolled in this cross-sectional study. Six types of abnormal eye movements including impaired smooth pursuit, increased square-wave jerks (SWJ), gaze-evoked nystagmus (GEN), slowing of saccades, saccadic hypo/hypermetria and supranuclear gaze palsy were evaluated by experienced neurologists. The severity of ataxia was evaluated by Scale for the Assessment and Rating of Ataxia (SARA). RESULTS: The prevalence of impaired smooth pursuit, increased SWJ, GEN, slowing of saccades, saccadic hypo/hypermetria and supranuclear gaze palsy in Chinese SCA3 patients was 28.4, 13.5, 78.4, 41.9, 23.0, and 5.4%, respectively. SCA3 patients with GEN had higher scores of International Cooperative Ataxia Rating Scale (ICARS-IV) and total ICARS, and longer length of CAG repeat than patients without GEN. SCA3 patients with slowing of saccades had a longer disease duration, higher scores of ICARS-I, ICARS-II, total ICARS and SARA than patients without slowing of saccades. SCA3 patients with saccadic hypo/hypermetria had higher scores of ICARS-III, ICARS-IV, and SARA than patients without saccadic hypo/hypermetria. The demographic and clinical characteristics did not differ significantly between SCA3 patients with and without impaired smooth pursuit, increased SWJ, or supranuclear gaze palsy. Multivariate linear regression showed that the number of abnormal eye movements (0-6), disease duration, Hamilton Depression Rating Scale-24 (HDRS-24) score, and CAG repeat length were positively correlated with SARA score, whereas Montreal Cognitive Assessment (MoCA) score was negatively correlated with SARA score in SCA3. CONCLUSIONS: An increased number of abnormal eye movement types correlated with the severity of ataxia in SCA3.
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Doença de Machado-Joseph/complicações , Transtornos da Motilidade Ocular/epidemiologia , Transtornos da Motilidade Ocular/etiologia , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , PrevalênciaRESUMO
There is evidence of a higher prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) in individuals with spinocerebellar ataxia type 3 (SCA3), although the factors underlying this association remain unknown. The present study aimed to determine the prevalence of RLS/WED in SCA3 patients and to investigate which factors of SCA3 patients are associated with presence of RLS/WED. From February to August of 2006, we carried out clinical interviews in 40 controls and 40 SCA3 patients, diagnosed and followed up at Faculty of Medicine of Ribeirão Preto, University of São Paulo. Twenty-seven SCA3 patients were submitted to a detailed clinical protocol, electroneuromyography, blood work up, polysomnography (PSG), suggested immobilization test (SIT), and magnetic resonance image (MRI). RLS/WED was found in 27.5% of SCA3 patients and 2.5% of normal controls (p = 0.003). The factors related to RLS/WED in SCA3 patients were female gender, age at start of the symptoms of ataxia after 30 years, presence of peripheral neuropathy, and documented iron deficiency. Among SCA3 patients, those with RLS showed higher values of maximal discomfort level and discomfort level sum compared to non-RLS individuals on SIT. There is a relation between RLS/WED and SCA3, which seems to be resultant of different factors whose identification could improve the quality of assistance to those patients as well as to promote a better comprehension of the pathophysiology of both RLS/WED and SCA3.
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Doença de Machado-Joseph/complicações , Síndrome das Pernas Inquietas/complicações , Adolescente , Adulto , Idade de Início , Idoso , Anemia Ferropriva/complicações , Eletromiografia , Feminino , Humanos , Doença de Machado-Joseph/sangue , Doença de Machado-Joseph/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Doenças do Sistema Nervoso Periférico/complicações , Polissonografia , Prevalência , Síndrome das Pernas Inquietas/sangue , Síndrome das Pernas Inquietas/fisiopatologia , Fatores Sexuais , Adulto JovemRESUMO
OBJECTIVES: To describe the combination of spinocerebellar ataxia (SCA) types 3 and 6 and sporadic inclusion body myositis (IBM). METHODS: A description of five patients with SCA type 3 and 6 who were diagnosed with IBM. We explore possible mechanisms explaining the coexistence of both diseases. RESULTS: The patients with SCA-3 (n=4) and SCA-6 (n=1) developed asymmetric muscle weakness in a pattern suggestive of IBM in the course of their disease. Based on findings of neurological examination and additional investigations (muscle ultrasound, muscle biopsy), the diagnosis of IBM was made in all patients. CONCLUSION: We report on five patients with concomitant SCA and IBM. Our cases may merely illustrate coincidental co-occurrence of IBM and SCA-3/SCA-6. However, the presence of SCA mutations could predispose to the development of IBM in some SCA patients, or, the presence of toxic aggregates and malfunctioning of cellular quality control processes in both diseases could indicate a convergence of disease mechanisms.
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Doença de Machado-Joseph/patologia , Miosite de Corpos de Inclusão/patologia , Ataxias Espinocerebelares/patologia , Adolescente , Adulto , Idoso , Biópsia , Feminino , Humanos , Doença de Machado-Joseph/complicações , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/complicações , Debilidade Muscular/patologia , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Miosite de Corpos de Inclusão/complicações , Ataxias Espinocerebelares/complicações , Ultrassonografia , Adulto JovemAssuntos
Doença de Machado-Joseph/patologia , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/patologia , Adolescente , Ataxina-3/genética , Feminino , Humanos , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/genética , Proteínas Repressoras/genética , Doenças Retinianas/complicações , Tomografia de Coerência Óptica , Expansão das Repetições de Trinucleotídeos/genéticaRESUMO
BACKGROUND: For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied. METHODS: We used multivariable linear and logistical regression models in 257 molecularly-confirmed SCA3 patients (66 Caucasians, 43 African Americans, and 148 Asians [composed of 131 Chinese and 17 Asian Americans]) to explore the influence of ethnicity on age at onset (AAO), ataxia severity, and non-ataxia symptoms (i.e. depression, tremor, and dystonia). RESULTS: We found that Asians had significantly later AAO, compared to Caucasians (ß = 4.75, p = 0.000) and to African Americans (ß = 6.64, p = 0.000) after adjusting for the pathological CAG repeat numbers in ATXN3. African Americans exhibited the most severe ataxia as compared to Caucasians (ß = 3.81, p = 0.004) and Asians (ß = 4.39, p = 0.001) after taking into consideration of the pathological CAG repeat numbers in ATXN3 and disease duration. Caucasians had a higher prevalence of depression than African Americans (ß = 1.23, p = 0.040). Ethnicity had no influence on tremor or dystonia. CONCLUSIONS: Ethnicity plays an important role in clinical presentations of SCA3 patients, which could merit further clinical studies and public health consideration. These results highlight the role of ethnicity in monogenetic, neurodegenerative disorders.
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Povo Asiático/etnologia , Negro ou Afro-Americano/etnologia , Doença de Machado-Joseph/etnologia , Doença de Machado-Joseph/fisiopatologia , População Branca/etnologia , Adulto , Idade de Início , Idoso , Asiático , Depressão/etnologia , Depressão/etiologia , Feminino , Humanos , Estudos Longitudinais , Doença de Machado-Joseph/complicações , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de DoençaRESUMO
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominant neurodegenerative disorder that affects mainly the cerebellum and less other brain areas. While the ataxic/motor features of the disease have been well described, the cognitive consequences of the degeneration require additional testing. The aim of this study was to evaluate learning abilities in SCA3. We tested 13 SCA3 patients and 14 age-matched healthy controls, all of Yemenite origin, on a neuropsychological battery of procedural and declarative memory tests. SCA3 patients demonstrated impaired sequence learning on the procedural Serial Reaction Time test (SRTt) but normal learning on the procedural Weather Prediction Probabilistic Classification test (WPPCt). SCA3 patients showed normal learning on the declarative Rey Auditory Verbal Learning test (Rey-AVLt). The correlations between the learning measures of the SRTt, WPPCt, and Rey-AVLt tests in SCA3 and controls separately were not significant. These results imply that the cerebellar degeneration in SCA3 causes selective impairment in procedural sequence learning while the procedural probabilistic learning and declarative memory were mostly preserved. These findings support the assumption that procedural learning is not a homogeneous function and could be dissociated in cerebellar neurodegenerative disease.
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Aprendizagem/fisiologia , Doença de Machado-Joseph/complicações , Transtornos da Memória/etiologia , Memória/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Background: Dystonia is a relatively common feature of spinocerebellar ataxia 3 (SCA3). Childhood onset of SCA3 is rare and typically associated with either relatively large, or homozygous, CAG repeat expansions. Case report: We describe a 10-year-old girl with SCA3, who presented with tongue dystonia in addition to limb dystonia and gait ataxia due to a heterozygous expansion of 84 repeats in ATXN3. Discussion: Diagnosis of the SCAs can be challenging, and even more so in children. Tongue dystonia has not previously been documented in SCA3.
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Distonia/fisiopatologia , Transtornos Neurológicos da Marcha/fisiopatologia , Doença de Machado-Joseph/fisiopatologia , Língua/fisiopatologia , Idade de Início , Ataxina-3/genética , Criança , Distonia/etiologia , Feminino , Transtornos Neurológicos da Marcha/etiologia , Humanos , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/genética , Proteínas Repressoras/genética , Expansão das Repetições de Trinucleotídeos/genéticaRESUMO
BACKGROUND: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. OBJECTIVE: To quantify the impact of disease progression measured by the Scale for the Assessment and Rating of Ataxia on survival, and to identify different profiles of disease progression and survival. METHODS: Four hundred sixty-two spinocerebellar ataxia patients from the EUROSCA prospective cohort study, suffering from spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, and spinocerebellar ataxia type 6, and who had at least two measurements of Scale for the Assessment and Rating of Ataxia score, were analyzed. Outcomes were change over time in Scale for the Assessment and Rating of Ataxia score and time to death. Joint model was used to analyze disease progression and survival. RESULTS: Disease progression was the strongest predictor for death in all genotypes: An increase of 1 standard deviation in total Scale for the Assessment and Rating of Ataxia score increased the risk of death by 1.28 times (95% confidence interval: 1.18-1.38) for patients with spinocerebellar ataxia type 1; 1.19 times (1.12-1.26) for spinocerebellar ataxia type 2; 1.30 times (1.19-1.42) for spinocerebellar ataxia type 3; and 1.26 times (1.11-1.43) for spinocerebellar ataxia type 6. Three subgroups of disease progression and survival were identified for patients with spinocerebellar ataxia type 1: "severe" (n = 13; 12%), "intermediate" (n = 31; 29%), and "moderate" (n = 62; 58%). Patients in the severe group were more severely affected at baseline with higher Scale for the Assessment and Rating of Ataxia scores and frequency of nonataxia signs compared to those in the other groups. CONCLUSION: Rapid ataxia progression is associated with poor survival of the most common spinocerebellar ataxia. Theses current results have implications for the design of future interventional studies of spinocerebellar ataxia. © 2019 International Parkinson and Movement Disorder Society.
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Ataxias Espinocerebelares/mortalidade , Ataxias Espinocerebelares/fisiopatologia , Adulto , Idoso , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/fisiopatologia , Estudos de Coortes , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/fisiopatologia , Progressão da Doença , Distonia/etiologia , Distonia/fisiopatologia , Feminino , Humanos , Estudos Longitudinais , Doença de Machado-Joseph/complicações , Doença de Machado-Joseph/mortalidade , Doença de Machado-Joseph/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Ataxias Espinocerebelares/complicações , Taxa de Sobrevida , Fatores de TempoRESUMO
INTRODUCTION: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common spinocerebellar ataxia (SCA) worldwide. SCA3 presents with cerebellar ataxia in association with pyramidal signs, peripheral amyotrophy, nystagmus, ophthalmoparesis, fasciculations of the face and tongue, dystonia and parkinsonism. Oromandibular dystonia (OMD) with facial grimacing (FG) in SCA3 has seldom been reported in the literature and in series of SCA3 patients. METHODS: We evaluated 104 patients with SCA (59 patients with SCA3, 20 with SCA2, 20 with SCA7 and 5 with SCA6) and assessed dystonia frequency and types. RESULTS: Thirteen cases of SCA3, one of SCA2 and two of SCA7 had dystonia. OMD in the form of FG was present in seven SCA3 patients (11.9%). Patients with FG were significantly younger, had earlier disease onset and a significantly higher CAG repetition length when compared to the SCA3 sample. Parkinsonism, dysphagia and pyramidal signs were significantly more frequent in the FG group than the non-FG group of the SCA3 sample. CONCLUSION: Patients with SCA3 presenting with FG are younger, with earlier disease onset and higher CAG repetition length. They present with parkinsonism, dysphagia and pyramidal signs more frequently than SCA3 patients without FG.