Diagnosis Of Spinocerebellar Ataxia Type Research Articles

Spinocerebellar ataxia type 7: A case report

Introduction: Spinocerebellar ataxia type 7 is part of a rare group of neurodegenerative diseases, characterized by lesions in the brainstem, cerebellum, spinal cord, and retina, manifesting as motor disturbances associated with signs of pyramidal involvement and amaurosis. The dysfunction is caused by autosomal dominant genetic alterations, with disease severity and the age of symptom onset being directly linked to the patient’s genetic expression. Case Report: We present the case of a 24-year-old woman, previously healthy, who denied smoking, drinking alcohol, or taking any other drugs. She reported that approximately nine months, she had experienced a decline in dexterity for tasks requiring fine motor skills. She also exhibited impaired gait, frequent falls, and difficulties in performing basic activities of daily living (ADLs). On neurological examination, she presented with an ataxic and staggering gait, tremor during movement, dysmetria, dysdiadochokinesia, movement decomposition, dysarthria (scanning speech), dysphagia, dystasia, dysbasia, and nystagmus, all of which are indicative of cerebellar impairment. A genetic panel revealed the presence of 44 cytosine-adenine-guanine nucleotide repeat expansions on allele 2 of the ATXN7 gene, confirming the diagnosis of spinocerebellar ataxia type 7. Conclusion: In this case report, the diagnosis of spinocerebellar ataxia was established through a comprehensive assessment of the patient’s clinical history, neurological examination, imaging studies, and genetic profiling, all of which are essential for reaching a definitive diagnosis. The prognosis for this disease varies due to ongoing research into its pathophysiology. Furthermore, discussions within the scientific community regarding potential cures for this condition continue

Integration of graph network with kernel SVM and logistic regression for identification of biomarkers in SCA12 and its diagnosis.

Spinocerebellar ataxia type 12 is a hereditary and neurodegenerative illness commonly found in India. However, there is no established noninvasive automatic diagnostic system for its diagnosis and identification of imaging biomarkers. This work proposes a novel four-phase machine learning-based diagnostic framework to find spinocerebellar ataxia type 12 disease-specific atrophic-brain regions and distinguish spinocerebellar ataxia type 12 from healthy using a real structural magnetic resonance imaging dataset. Firstly, each brain region is represented in terms of statistics of coefficients obtained using 3D-discrete wavelet transform. Secondly, a set of relevant regions are selected using a graph network-based method. Thirdly, a kernel support vector machine is used to capture nonlinear relationships among the voxels of a brain region. Finally, the linear relationship among the brain regions is captured to build a decision model to distinguish spinocerebellar ataxia type 12 from healthy by using the regularized logistic regression method. A classification accuracy of 95% and a harmonic mean of precision and recall, i.e. F1-score of 94.92%, is achieved. The proposed framework provides relevant regions responsible for the atrophy. The importance of each region is captured using Shapley Additive exPlanations values. We also performed a statistical analysis to find volumetric changes in spinocerebellar ataxia type 12 group compared to healthy. The promising result of the proposed framework shows that clinicians can use it for early and timely diagnosis of spinocerebellar ataxia type 12.

Neuropsychology of Spinocerebellar Ataxia Type 2, a Case Study in Stage I Disease

Currently, the evaluation of cognitive disorders in Spinocerebellar Ataxia Type 2 is of great interest, given that the identification of its neuropsychological characteristics allows for a deeper understanding of the disease. However, its approach from the field of study of neuropsychology, based on the integration of the cognitive, affective and behavioral state, is insufficient. The objective of study is characterized from a neuropsychological point of view, a series of cases with Spinocerebellar Ataxia Type 2 in stage I. A multiple case study was carried out with four patients with diagnosis of Spinocerebellar Ataxia Type 2 in stage I genetically confirmed and intentionally chosen. Psychological and neurocognitive tests were applied to evaluate the cognitive, affective and behavioral spheres. Patients with SCA2 stage I presented cognitive impairment in the neuropsychological examination, only one of the subjects showed normal global cognitive functioning, although in the evaluation by specific domains he evidenced various cognitive deficits. Anxiety and depression at pathological levels were not identified in the patients. They showed satisfaction and self-actualization with their lifestyles. The neuropsychological characterization of the cases studied with SCA2 in stage I contributed to a greater understanding of the disease. The identified deficits speak in favor of carrying out a neuropsychological evaluation from the initial stages, to project more effective neuropsychological rehabilitation strategies, which is of interest to the scientific community in the field of Neurosciences.

Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.

BackgroundAdult‐onset Nieman–Pick disease type C (NPC) is a rare progressive ataxia caused by lysosomal accumulation of unesterified cholesterol resulting in severe disability and death. The diagnosis of NPC can be challenging as clinical features overlap with other more common hereditary ataxias. This study pursued the molecular genetic basis of adult‐onset cerebellar ataxia manifesting in two siblings. A prior diagnosis of spinocerebellar ataxia type 2 (SCA2) based on an ataxia gene panel was questioned when the younger sibling developed similar symptoms but had discordant genetic results.MethodsNeurologic examination, whole exome sequence (WES), targeted sequence to establish genome phasing, and cytochemical and biochemical studies of fibroblast cultures were employed.ResultsThe pedigree and neurological examinations suggested a recessive or possibly dominant cerebellar ataxia. WES showed the siblings were both compound heterozygous for two rare variants in the NPC1 gene—one pathogenic, stop gain at p.Arg934Ter (NM_000271.4), and a missense change, p.Pro471Leu (NM_000271.4), of uncertain significance. Filipin staining of fibroblast cultures showed lysosomal cholesterol accumulation and biochemical assay demonstrated impaired cholesterol esterification.ConclusionsThe study established the correct molecular diagnosis of biallelic, adult‐onset NPC in a patient initially diagnosed with SCA. Additionally, the p.Pro471Leu variant was identified as likely pathogenic. Inaccurate molecular diagnosis will deprive NPC patients of treatment options. Investigation using WES is justified when a detected expansion size is in the borderline range for pathogenicity.

Spinocerebellar Ataxia Type 13: A report of a non-progressive disease

Introduction: Spinocerebellar ataxia type 13 is a rare autosomal dominant disease caused by point mutations in the KCNC3 gene coding for the Kv3.3 voltage-gated potassium channel. This disease can present different neurodevelopmental and neurodegenerative forms. Case report: We present a case of a child who had trunk and appendicular ataxia, exuberant gait ataxia, tremor, dysarthria, and dysrhythmic and scanning speech. She presented a delay and difficulty in acquiring fine motor skills. Cerebral magnetic resonance imaging showed moderate hypoplasia of the cerebellum. A pathogenic variant c1268 G>A p.(Arg423His) in heterozygosity in the KCNC3 gene was detected, allowing the diagnosis of Spinocerebellar Ataxia type 13. Later, the same diagnosis was established in the patient's father. However, he gradually improved his ataxia and motor function throughout his life. Discussion: Unlike most spinocerebellar ataxias, including the other spinocerebellar ataxia type 13 phenotypes, this one does not lead to progressive ataxia. Children with this disease should be follow-up by a multidisciplinary team and referred to an early intervention program. A regular neurologic examination is recommended to evaluate disease progression.

Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial

IntroductionCerebellar ataxia remains a neurological symptom orphan of treatment interventions, despite being prevalent and incapacitating. We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. MethodsWe included patients with diagnosis of spinocerebellar ataxia type 3, multiple systems atrophy cerebellar type, or post-lesion ataxia. Patients received five sessions each of sham and active cerebellar 1 Hz deep repetitive transcranial magnetic stimulation in randomized order. Our primary outcome was the decrease in the Scale for the Assessment and Rating of Ataxia when comparing phases (active x sham). Secondary outcomes measures included the International Cooperative Ataxia Rating Scale, and other motor, cognitive, and quality of life scales. This study was registered at clinicaltrials.gov (protocol NCT03213106). ResultsTwenty-four patients aged 29–74 years were included in our trial. After active stimulation, the Scale for the Assessment and Rating of Ataxia score was significantly lower than the score after sham stimulation [median (interquartile range) of 10.2 (6.2, 16.2) versus 12.8 (9.6, 17.8); p = 0.002]. The International Cooperative Ataxia Rating Scale score also improved after active stimulation versus sham [median (interquartile range) of 29.0 (21.0, 43.5) versus 32.8 (22.0, 47.0); p = 0.005]. Other secondary outcomes were not significantly modified by stimulation. No patient presented severe side effects, and nine presented mild and self-limited symptoms. ConclusionsOur protocol was safe and well-tolerated. These findings suggest that cerebellar modulation may improve ataxic symptom and provide reassurance about safety for clinical practice.

Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report

BackgroundGenetic familiar causes of oro-facial dyskinesia are usually restricted to Huntington’s disease, whereas other causes are often missed or underestimated. Here, we report the case of late-onset oro-facial dyskinesia in an elderly patient with a genetic diagnosis of Spinocerebellar Ataxia type 2 (SCA2).Case presentationA 75-year-old man complained of progressive balance difficulty since the age of 60 years, associated with involuntary movements of the mouth and tongue over the last 3 months. No exposure to anti-dopaminergic agents, other neuroleptics, antidepressants, or other drugs was reported. Family history was positive for SCA2 (brother and the son of the brother). At rest, involuntary movements of the mouth and tongue were noted; they appeared partially suppressible and became more evident during stress and voluntary movements. Cognitive examination revealed frontal-executive dysfunction, memory impairment, and attention deficit. Brain magnetic resonance imaging (MRI) disclosed signs of posterior periventricular chronic cerebrovascular disease and a marked ponto-cerebellar atrophy, as confirmed by volumetric MRI analysis. A dopamine transporter imaging scan demonstrated a bilaterally reduced putamen and caudate nucleus uptake. Ataxin-2 (ATXN2) gene analysis revealed a 36 cytosine-adenine-guanine (CAG) repeat expansion, confirming the diagnosis of SCA2.ConclusionsSCA2 should be considered among the possible causes of adult-onset oro-facial dyskinesia, especially when the family history suggests an inherited cerebellar disorder. Additional clinical features, including parkinsonism and motor neuron disease, may represent relevant cues for an early diagnosis and adequate management.

THUR 101 SCA-1 with unusual early dysautonomia and delayed cerebellar signs

A 59-year-old right-handed bus driver presented with gradually worsening erectile dysfunction, urinary frequency and nocturia over 18 months. He had a past medical history of hypertension with regular medications including amlodipine, aspirin and atorvastatin. Initial examination revealed a mild bilateral intention tremor.The patient had undergone brain imaging showing brainstem and cerebellar atrophy with a ‘hot cross bun sign’. The patient was then referred for autonomic function tests that demonstrated mild cardiovascular autonomic changes, and suggested sympathetic dysfunction. A working diagnosis of multiple system atrophy (MSA) was made.Over the next two years, his tremor worsened with the development of slurred speech and unsteady gait. On examination, he had prominent fasciculations and wasting in the right shoulder, severe bilateral intention tremor with past-pointing. In addition he had Parkinsonism and signs of a sensorimotor neuropathy.This atypical clinical evolution with prominent neuropathy and cerebellar signs led to investigations for spinocerebellar ataxia (SCA), particularly type 2 or 3 (given the autonomic dysfunction). However, the genetic testing showed a mutation in ATXN1, confirming a diagnosis of SCA type 1.To our knowledge, this is the first reported case of prominent early autonomic dysfunction associated with SCA type 1.

The issue of the fate of a foetus with a mutation after a prenatal diagnosis of spinocerebellar ataxia type I in comparison with myotonic dystrophy in the Sakha Republic (Yakutia)

The issue of the fate of a foetus with a mutation after a prenatal diagnosis of spinocerebellar ataxia type I in comparison with myotonic dystrophy in the Sakha Republic (Yakutia)

Ataxia Severity Correlates with White Matter Degeneration in Spinocerebellar Ataxia Type 7.

There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial Statistics. Thirty-three patients with a molecular diagnosis of spinocerebellar ataxia type 7 and their age- and sex-matched healthy controls participated in this study. The patients' ataxia severity was evaluated with the Scale for the Assessment and Rating of Ataxia. Voxelwise analyses of diffusion metrics, including fractional anisotropy and mean diffusivity, were performed with Tract-Based Spatial Statistics. The correlation between WM abnormalities and ataxia severity was then calculated. Tract-Based Spatial Statistics analysis revealed WM abnormalities in the cerebellum and the cerebellar peduncles, as well as in other major cortical and subcortical pathways. Further analysis between the Scale for the Assessment and Rating of Ataxia score and WM mean diffusivity showed significant associations only in key areas related to motor control and visuospatial processing, including the cerebellar WM, the middle occipital WM, the superior cerebellar peduncle, and bilateral anterior thalamic radiation. No significant associations between fractional anisotropy and the Scale for the Assessment and Rating of Ataxia were found. These results suggest a significant contribution of local cerebellar and cerebellar-midbrain connections to ataxic impairment in spinocerebellar ataxia type 7. The results also suggest an involvement of cortical WM abnormalities including tracts within the occipital and frontal cortices. These findings contribute to a more comprehensive view of the clinical impact of the white matter degeneration in spinocerebellar ataxia type 7.

MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION

To report the variability and progression of clinical presentation in three family members with spinocerebellar ataxia Type 7 including early recognizable features on retinal imaging and magnetic resonance imaging. Retrospective case series. The proband, Patient 1 (mother) presented at age 26 with light perception vision. Initial examination was significant for optic disc pallor, vascular attenuation, and central macular atrophy. Two years later, her vision declined to no light perception, and fundus examination demonstrated marked progression of macular atrophy and peripheral bone spicule formation. Seven years after the onset of vision loss, neurologic examination demonstrated ataxia, dysarthria, and slowed saccades. Genetic testing of ATXN7 identified heterozygous 61-CAG trinucleotide repeat expansion confirming the diagnosis of spinocerebellar ataxia Type 7. Patient 2 (son) presented at age 11 with visual acuity of 20/300 bilaterally and decreased color vision. Funduscopic examination was notable for disc pallor, vascular attenuation, and peripheral pigmentary changes. Electroretinography demonstrated diminished rod and cone function, and Goldmann visual field testing revealed paracentral scotoma. Patient 3 (daughter) presented at age 14 with visual acuity of 20/50 bilaterally and minimal funduscopic changes. The only significant ophthalmic finding was retinal thinning with atrophy of the outer nuclear layer and subfoveal ellipsoid zone on optical coherence tomography. Early cerebellar volume loss was also noted on magnetic resonance imaging. The clinical presentation of spinocerebellar ataxia Type 7 can vary widely even within the same family. In individuals with vision loss and normal fundus examination, careful evaluation of optical coherence tomography and brain magnetic resonance imaging facilitates early diagnosis and genetic testing.

Ataxia espinocerebelar tipo 6: relato de caso

O objetivo deste estudo foi verificar as alterações vestibulococleares observadas em um caso de ataxia espinocerebelar tipo 6. O caso foi encaminhado do Hospital de Clínicas para o Laboratório de Otoneurologia de uma Instituição de Ensino e foi submetido aos seguintes procedimentos: anamnese, inspeção otológica, avaliações audiológica e vestibular. O caso retrata uma paciente com diagnóstico genético de ataxia espinocerebelar tipo 6, do sexo feminino, com 57 anos de idade, que referiu desequilíbrio à marcha com tendência a queda para a esquerda, disartria e disfonia. Na avaliação audiológica apresentou configuração audiométrica descendente a partir da frequência de 4kHz e curva timpanométrica do tipo "A" com presença dos reflexos estapedianos bilateralmente. No exame vestibular observou-se na pesquisa da vertigem posicional presença de nistagmo vertical inferior e oblíquo, espontâneo e semiespontâneo múltiplo com características centrais (ausência de latência, paroxismo, fatigabilidade e vertigem), nistagmooptocinético abolido e hiporreflexia à prova calórica. Constataram-se alterações labirínticas que indicaram afecção do sistema vestibular central evidenciando-se a importância dessa avaliação. A existência da possível relação entre os achados com os sintomas vestibulares apresentados pela paciente apontou a relevância do exame labiríntico neste tipo de ataxia uma vez que a presença do nistagmo vertical inferior demonstrou ser frequente neste tipo de patologia.

脊髄小脳失調症3型 (Machado-Joseph 病) における神経耳科学的所見

In recent years, a definitive diagnosis of spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), has become possible at an early stage with the development of a gene analysis method. We retrospectively investigated the otoneurological findings of 56 patients (male, 23 patients; female, 33 patients) who had been definitively diagnosed as having SCA3/MJD by gene information retrieval at Tokyo Metropolitan Neurological Hospital. In SCA3/MJD patients, the incidence of abnormal oto-neurological findings, e.g., upgaze palsy, gaze nystagmus, impaired optokinetic nystagmus (OKN), smooth pursuit, and saccade, reduced bilateral vestibulo-ocular reflex (VOR), and impaired visual suppression of VOR, was high. 12 of 56 patients had horizontal gaze palsy, so that those 12 cases were excluded from the later investigation. The reduced bilateral VOR performed by caloric response with cold and/or iced water was observed in 31 of 56 ears within six years of the disease; however, it was observed in all 32 ears of patients who had developed SCA3/MJD more than six years previously. Therefore, reduced bilateral VOR is considered to be a very useful biomarker of SCA3/MJD in clinical diagnosis, especially at six years or more since the onset of the disease. Moreover, the otoneurological findings in the markedly reduced VOR group (six patients) and normal VOR group (six patients) within six years after onset of the disease was investigated. In the markedly reduced VOR group, the incidence of upgaze palsy was higher, the impaired visual suppression of VOR was more advanced, and the mean maximum slow phase velocity of OKN was lower in comparison with the normal VOR group. It could indicate that the brainstem dysfunctions were more severe in the markedly reduced VOR group than in the normal VOR group. This may account for the fact that the bilateral VOR dysfunction in patients with SCA3/MJD may be due to a disorder in the central vestibular system originating from the VOR pathways.

Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family With Full CAG Repeat Expansions ofATXN2

A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described. Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia and her paternal uncle with ALS who were evaluated at Columbia University Medical Center since July 2006. Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2. The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family are highlighted. A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patient with ataxia and a family history of ALS.

Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

Abstract Background: Hereditary ataxia is a group of hereditary diseases that are characterized by chronic progressive uncoordinated gait and are frequently associated with cerebellar atrophy. Objectives: To investigate evidence-based diagnosis of hereditary ataxia by retrospective analysis of the diagnostic process in one Chinese family. Methods: Clinical records of 15 ataxia patients from one Chinese family with 46 family members were retrospectively reviewed and a tentative diagnosis was made based on clinical manifestations, signs and symptoms, mode of inheritance, and progression. Since hereditary ataxia is a group of heterogeneous diseases having various subtypes and overlapping symptoms, we adopted a stepwise evaluation to achieve a tentative diagnosis. To confirm the diagnosis, we performed polymerase chain reaction (PCR) specific for the suspected causative gene of spinocerebellar ataxia (SCA) subtype 3 (SCA3). Results: Through analysis of hereditary and clinical characteristics of family histories of the patients, we suspected that the family might suffer from SCA, especially, SCA3. The PCR assay for SCA3 showed that, five of the ten samples analyzed had a CAG trinucleotide expansion of the SCA3 gene, and four of the five members developed ataxia. The remaining one, a seven-year-old girl, showed no symptoms or signs except for uvula deviation. No clinical symptoms were found in five other members with negative PCR results. Thus, based on both clinical findings and laboratory results, we further confirmed that the family suffered from SCA3. Conclusion: Hereditary ataxias are disorders sharing overlapping symptoms. Comprehensive analysis of medical and family records together with genetic diagnosis improves diagnostic efficiency of hereditary ataxia and aides in family counseling.

Ataxia espinocerebelar tipo 7

The aim of this study was to verify the possible alterations observed in a case of spinocerebellar ataxia type 7. The patient was referred to the Laboratory of Neurotology of Universidade Tuiuti do Paraná (Brazil), and was submitted to the following procedures: anamnesis, otoscopy, auditory and vestibular assessments. The case described is a 34-year-old woman with a genetic diagnosis of spinocerebellar ataxia type 7, who referred imbalance when walking, speech difficulties, headache, dizziness, and dysphagia. The audiological evaluation showed normal hearing thresholds and tympanometric curve type "A", with bilateral presence of stapedius reflex. In the vestibular evaluation, it was observed the presence of spontaneous and gaze nystagmus with central characteristics, altered optokinetic nystagmus and pendular tracking, and hyperreflexia during the caloric test. Labyrinth alterations were found, indicating central vestibular system affection and evidencing the importance of this evaluation. The existence of a possible relationship between the findings and the neurotological symptoms presented by the patient leads us to a new issue, that is, the importance of the applicability of rehabilitation exercises that act in central structures of neuroplasticity. These exercises accelerate and stimulate natural compensation mechanisms, which may provide the patient with ataxia a better performance of its functions.

Childhood Mood Disorder in Spinocerebellar Ataxia Type 2: A Case Report

Childhood Mood Disorder in Spinocerebellar Ataxia Type 2: A Case Report

Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood

Spinocerebellar ataxia type 2 typically presents in adulthood with progressive ataxia, dysarthria, tremor, and slow saccadic eye movements. Childhood-onset spinocerebellar ataxia type 2 is rare, and only the infantile-onset form has been well characterized clinically. This article describes a girl who met all developmental milestones until age 3(1/2) years, when she experienced cognitive regression that preceded motor regression by 6 months. A diagnosis of spinocerebellar ataxia type 2 was delayed until she presented to the emergency department at age 7 years. This report documents the results of her neuropsychologic evaluation at both time points. This case broadens the spectrum of spinocerebellar ataxia type 2 presentation in childhood, highlights the importance of considering a spinocerebellar ataxia in a child who presents with cognitive regression only, and extends currently available clinical information to help clinicians discuss the prognosis in childhood spinocerebellar ataxia type 2.

Psychological Aspects of Presymptomatic Diagnosis of Spinocerebellar Ataxia Type 2 in Cuba

Objective: In this paper, we present a descriptive study of the first year of implementation of the predictive genetic testing program for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington disease. Subjects and Methods:Medical records were retrospectively reviewed from 100 individuals who requested presymptomatic diagnosis. They had been seen between February 2001 and May 2002 at the Ataxia Clinic in the province of Holguín and had completed the protocol. The participants had psychological evaluations before testing and 1 week after being informed of the result. Results: The average age of the participants in the presymptomatic testing for SCA2 was 39.3 years, 62% were female. The main reasons for taking the test were family planning and risk assessment in their children. Family participation in the process was high and there were several additional sources of social support. Before the test, the subjects did not present high levels of anxiety or depression. On informing the patients of the test results indicators for anxiety and depression significantly decreased, and there were no significant differences according to whether the test result had been positive or negative. Catastrophic events were rare during the first week after the test. Conclusions: The results indicate a strong interest in presymptomatic diagnosis among individuals at risk for SCA2 in Holguín and a lack of significant psychological drawbacks up to 1 week after information of results.

Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.