Oculomotor Abnormalities Research Articles

Progression of alternating hemiplegia of childhood‐related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy

Mutations in the ATP1A3 gene (which encodes the main α subunit in neuronal Na+/K+-ATPases) cause various neurological syndromes including alternating hemiplegia of childhood. This rare disorder is characterized by paroxysmal episodes of hemiplegia, dystonia, oculomotor abnormalities, and occasionally developmental regression. Approximately 50% of alternating hemiplegia of childhood patients also have epilepsy, which is either focal or generalized. Seizures are often drug resistant. We report a 10-year-old girl with the D801N ATP1A3 mutation and alternating hemiplegia of childhood who manifested with drug-resistant focal seizures as an infant and throughout childhood. At the age of about10.5 years, her epilepsy evolved into electrical status epilepticus in sleep with generalized discharges. These changes coincided with developmental regression consistent with epileptic encephalopathy. Additionally, MRI and MR spectroscopy showed new cortical atrophy and markedly depressed N-acetyl aspartate peaks compared to previous normal studies. Electrical status epilepticus in sleep resolved after medication adjustments. She, now, only four months after her diagnosis of electrical status epilepticus in sleep, has regained most of the skills that were lost only a few months earlier. Our observations document that alternating hemiplegia of childhood can result in the above-described unique features; particularly, progression of focal epilepsy to electrical status epilepticus in sleep with generalized features and reversible epileptic encephalopathy.

Supranuclear oculomotor palsy in cerebral venous sinus thrombosis: a case report

BackgroundFor certain ocular movement abnormalities, the exact neuroanatomical localization of the causative lesion is still not defined. Oculomotor apraxia, apraxia of eye opening and closing, and motor impersistence are rarely reported in acute stroke, particularly following venous stroke.Case ReportA 34-year-old man presented with headache, vomiting, focal seizures with bilateral tonic-clonic movements, and altered sensorium. Magnetic resonance imaging revealed bilateral frontal and left parietal hemorrhagic infarcts, and contrast venography revealed superior sagittal sinus thrombosis. The patient received anticoagulant treatment with antiepileptics. On re-examination on day 3, the patient had a rare combination of apraxia of eyelid closure, motor impersistence, and oculomotor apraxia. By Day 10 of admission, all oculomotor abnormalities had subsided.ConclusionTo the best of our knowledge, this is the first report of the combination of oculomotor apraxia and apraxia of eyelid closure with motor impersistence in a patient with cerebral venous sinus thrombosis.

Isolated Floccular Infarction with Impairment of High-Frequency Vestibulo-Ocular Reflex: A Case Report

The flocculus plays a crucial role in control of eye movements. Based on animal experiment, it is suggested that the flocculus is important for governing vestibuleocular reflexes. In humans, an isolated floccular lesion is extremely rare. We report oculomotor abnormalities in a patient with unilateral infarction of the flocculus, and compare our results with those of previously reported patients with floccular lesion.

Preservation of Eye Movements in Parkinson's Disease Is Stimulus- and Task-Specific.

Parkinson's disease (PD) is a neurodegenerative disease that includes motor impairments, such as tremor, bradykinesia, and postural instability. Although eye movement deficits are commonly found in saccade and pursuit tasks, preservation of oculomotor function has also been reported. Here we investigate specific task and stimulus conditions under which oculomotor function in PD is preserved. Sixteen PD patients and 18 healthy, age-matched controls completed a battery of movement tasks that included stationary or moving targets eliciting reactive or deliberate eye movements: pro-saccades, anti-saccades, visually guided pursuit, and rapid go/no-go manual interception. Compared with controls, patients demonstrated systematic impairments in tasks with stationary targets: pro-saccades were hypometric and anti-saccades were incorrectly initiated toward the cued target in ∼35% of trials compared with 14% errors in controls. In patients, task errors were linked to short latency saccades, indicating abnormalities in inhibitory control. However, patients' eye movements in response to dynamic targets were relatively preserved. PD patients were able to track and predict a disappearing moving target and make quick go/no-go decisions as accurately as controls. Patients' interceptive hand movements were slower on average but initiated earlier, indicating adaptive processes to compensate for motor slowing. We conclude that PD patients demonstrate stimulus and task dependency of oculomotor impairments, and we propose that preservation of eye and hand movement function in PD is linked to a separate functional pathway through the superior colliculus-brainstem loop that bypasses the fronto-basal ganglia network. Our results demonstrate that studying oculomotor and hand movement function in PD can support disease diagnosis and further our understanding of disease progression and dynamics.SIGNIFICANCE STATEMENT Eye movements are a promising clinical tool to aid in the diagnosis of movement disorders and to monitor disease progression. Although Parkinson's disease (PD) patients show some oculomotor abnormalities, it is not clear whether previously described eye movement impairments are task-specific. We assessed eye movements in PD under different visual (stationary vs moving targets) and movement (reactive vs deliberate) conditions. We demonstrate that PD patients are able to accurately track moving objects but make inaccurate eye movements toward stationary targets. The preservation of eye movements toward dynamic stimuli might enable patients to accurately act on the predicted motion path of the moving target. These results can inform the development of tools for the rehabilitation or maintenance of functional performance.

Unusual Presentation of PLA2G6-Related Neurodegeneration with Retinal Vasculitis.

Unusual Presentation of PLA2G6-Related Neurodegeneration with Retinal Vasculitis.

The association of saccadic abnormalities with rem sleep in patients with Huntington's disease

BackgroundHuntington's disease (HD) is a progressive neurodegenerative disorder characterised by chorea, cognitive impairment, psychiatric and behavioral disturbances. Sleep disturbances including reduced REM sleep have been observed in HD. ObjectivesThe aim of the study was to study the polysomnography findings in HD and to assess whether oculomotor abnormalities are associated with poor REM sleep. MethodsTwenty-nine genetically confirmed HD patients underwent clinical evaluation including extraocular movement and OKN examination. Twenty-six patients and 15 controls underwent overnight video polysomnography (VPSG). ResultsVPSG of 23 HD patients and 13 controls were considered for analysis. Compared to controls, HD patients had higher median wake period and higher WASO percentage (p = 0.005). REM sleep percentage was reduced significantly in HD in comparison to controls (p < 0.001). Out of 23 patients, only two patients had REM sleep above 20% while 14 patients had REM sleep percentage less than 15%. Poor horizontal OKN (grades 2 and 3) was associated with the presence of low REM sleep percentage (REM sleep less than 15%) (p = 0.02). Low REM sleep was also associated with severe illness (UHDRS) (p = 0.038). ConclusionAn association between decreased REM sleep and OKN abnormalities indicate that EOM abnormalities seen in HD could lead to errors in scoring REM sleep. To understand the actual degree of decreased REM sleep percentage will require additional parameters in AASM guidelines to score REM sleep in patients with EOM abnormalities like that seen in HD.

Exploring persistent complaints of imbalance after mTBI: Oculomotor, peripheral vestibular and central sensory integration function.

Little is known on the peripheral and central sensory contributions to persistent dizziness and imbalance following mild traumatic brain injury (mTBI). To identify peripheral vestibular, central integrative, and oculomotor causes for chronic symptoms following mTBI. Individuals with chronic mTBI symptoms and healthy controls (HC) completed a battery of oculomotor, peripheral vestibular and instrumented posturography evaluations and rated subjective symptoms on validated questionnaires. We defined abnormal oculomotor, peripheral vestibular, and central sensory integration for balance measures among mTBI participants as falling outside a 10-percentile cutoff determined from HC data. A X-squared test associated the proportion of normal and abnormal responses in each group. Partial Spearman's rank correlations evaluated the relationships between chronic symptoms and measures of oculomotor, peripheral vestibular, and central function for balance control. The mTBI group (n = 58) had more abnormal measures of central sensory integration for balance than the HC (n = 61) group (mTBI: 41% -61%; HC: 10%, p's < 0.001), but no differences on oculomotor and peripheral vestibular function (p > 0.113). Symptom severities were negatively correlated with central sensory integration for balance scores (p's < 0.048). Ongoing balance complaints in people with chronic mTBI are explained more by central sensory integration dysfunction rather than peripheral vestibular or oculomotor dysfunction.

Clinically evident ocular movement abnormalities are specific for cognitive impairment in amyotrophic lateral sclerosis

Although oculomotor abnormalities (OMAs) are not usually considered prominent features of amyotrophic lateral sclerosis (ALS), they may represent potential clinical markers of neurodegeneration, especially when investigated together with cognitive and behavioral alterations. The aim of our study was to identify patterns of clinically evident OMAs in ALS patients and to correlate such findings with cognitive-behavioral data.

Association of Clinically Evident Eye Movement Abnormalities With Motor and Cognitive Features in Patients With Motor Neuron Disorders.

Although oculomotor abnormalities (OMAs) are not usually considered prominent features of amyotrophic lateral sclerosis (ALS), they may represent potential clinical markers of neurodegeneration, especially when investigated together with cognitive and behavioral alterations. The aim of our study was to identify patterns of clinically evident OMAs in patients with ALS and to correlate such findings with cognitive-behavioral data. Three consecutive inpatient cohorts of Italian patients with ALS and controls were retrospectively evaluated to assess the frequency of OMAs and cognitive-behavioral alterations. The ALS population was divided into a discovery cohort and a replication cohort. Controls included a cohort of cognitively impaired individuals and patients with Alzheimer disease (AD). Participants underwent bedside eye movement evaluation to determine the presence and pattern of OMAs. Cognitive assessment was performed with a standard neuropsychological battery (discovery ALS cohort and AD cohort) and the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS) (replication ALS cohort). We recruited 864 individuals with ALS (635 discovery, 229 replication), 798 who were cognitively unimpaired and 171 with AD. OMAs were detected in 10.5% of our ALS cohort vs 1.6% of cognitively unimpaired controls (p = 1.2 × 10-14) and 11.4% of patients with AD (p = NS). The most frequent deficits were smooth pursuit and saccadic abnormalities. OMA frequency was higher in patients with bulbar onset, prominent upper motor neuron signs, and advanced disease stages. Cognitive dysfunction was significantly more frequent in patients with OMAs in both ALS cohorts (p = 1.1 × 10-25). Furthermore, OMAs significantly correlated with the severity of cognitive impairment and with pathologic scores at the ECAS ALS-specific domains. Last, OMAs could be observed in 35.0% of cognitively impaired patients with ALS vs 11.4% of patients with AD (p = 6.4 × 10-7), suggesting a possible involvement of frontal oculomotor areas in ALS. Patients with ALS showed a range of clinically evident OMAs, and these alterations were significantly correlated with cognitive, but not behavioral, changes. OMAs may be a marker of neurodegeneration, and bedside assessment represents a rapid, highly specific tool for detecting cognitive impairment in ALS.

New-Onset Movement Disorders Associated with COVID-19.

Introduction:Movement disorders are increasingly described in hospitalized and milder cases of SARS-CoV-2 infection, despite a very low prevalence compared to the total patients.Methods:We reviewed the scientific literature published in English, spanning from the initial descriptions of COVID-19 until January 25, 2021, in the PubMed/MEDLINE database.Results:We identified 93 new-onset movement disorders cases (44 articles) from 200 papers screened in the database or reference lists. Myoclonus was present in 63.4% (n = 59), ataxia in 38.7% (n = 36), action/postural tremor in 10.8% (n = 10), rigid-akinetic syndrome in 5.38% (n = 5), oculomotor abnormalities in 20.4% (n = 19), catatonia in 2.1% (n = 2), dystonia in 1.1% (n = 1), chorea in 1.1% (n = 1), functional (psychogenic) movement disorders in 3.2% (n = 3) of the reported COVID-19 cases with any movement disorder. Encephalopathy was a common association (n = 37, 39.78%).Discussion:Comprehensive neurophysiological, clinical, and neuroimaging descriptions of movement disorders in the setting of SARS-CoV-2 infection are still lacking, and their pathophysiology may be related to inflammatory, postinfectious, or even indirect mechanisms not specific to SARS-CoV-2, such as ischemic-hypoxic brain insults, drug effects, sepsis, kidney failure. Cortical/subcortical myoclonus, which the cited secondary mechanisms can largely cause, seems to be the most common hyperkinetic abnormal movement, and it might occur in association with encephalopathy and ataxia.Conclusion:This brief review contributes to the clinical description of SARS-CoV-2 potential neurological manifestations, assisting clinical neurologists in identifying features of these uncommon syndromes as a part of COVID-19 symptomatology.Highlights– Movement disorders are probably uncommon neurological manifestations in SARS-CoV-2 infection;– Myoclonus is the most reported movement disorder associated with COVID-19, its clinical complications or pharmacological management;– The pathophysiology is yet not well-understood but can include systemic inflammation, autoimmune mechanisms, or hypoxia.

Wernicke’s encephalopathy in women with hyperemesis gravidarum – Case series and literature review

Whilst nausea affects around 80% of pregnant women, hyperemesis gravidarum, an extreme form of the same, affects only 0.5% to 3%, but may lead to severe nutritional deficiency. Wernicke's encephalopathy is an acute neuropsychiatric disorder which occurs due to thiamine deficiency and needs emergency treatment to prevent neurological morbidity and mortality. Wernicke's encephalopathy is characterised by a clinical triad of oculomotor abnormalities, cerebellar dysfunction and altered mental state. Korsakoff's psychosis is a chronic condition and consequence of Wernicke's encephalopathy, resulting from its delayed treatment. Wernicke's encephalopathy is a well-known complication of chronic alcohol abuse. Not many are aware of its association with hyperemesis gravidarum. Although it is a rare complication, if not diagnosed and treated promptly, it may result in permanent and irreversible neurological sequelae. The objective of our retrospective observational study was to analyse the clinical profile and outcome (short and long term) in a rare yet preventable complication of pregnancy.

OculoMotor Assessment Tool Test Procedure and Normative Data.

This study establishes normative data and a testing procedure for the oculomotor assessment tool. The oculomotor assessment tool standardizes visual targets for the Vestibular/OculoMotor Screening assessment and provides additional metrics that may aid in the differentiation between those with normal and those with abnormal oculomotor function potentially caused by a concussion. This study aimed to assess the oculomotor endurance of healthy participants with no self-reported history of concussions using the oculomotor assessment tool. Healthy participants (n = 376, average age of 20.4 years, range of 11 to 34 years, with no self-reported history of concussions) were recruited to perform the following three tasks for 60 seconds each: (1) horizontal saccades, (2) vertical saccades, and (3) vergence jumps. The participants were instructed to alternate visual fixation between two targets for each of the tasks as fast as they could without overshooting or undershooting the visual target. The differences in the number of eye movements between the initial and latter 30 seconds of the 1-minute test were analyzed. A statistical difference (P < .001) was observed in the number of eye movements for all three tasks (horizontal saccades [70 ± 15 for initial 30 seconds, 63 ± 13 for latter 30 seconds], vertical saccades [68 ± 14, 63 ± 13], and vergence jumps [43 ± 11, 39 ± 10]) between the initial and latter 30 seconds. No significant differences were identified in the number of eye movements or the change in eye movements between the initial and latter 30 seconds based on sex. These results establish a normative database for various eye movements. These data could potentially be used to compare different patient populations who have binocular endurance dysfunctions potentially due to traumatic brain injury, such as patients with concussion(s).

Saccade, Pupil, and Blink Responses in Rapid Eye Movement Sleep Behavior Disorder.

BackgroundParkinson's disease (PD) patients exhibit deficits in saccade performance, pupil function, and blink rate. Isolated REM (rapid eye movement) Sleep Behavior Disorder (RBD) is a harbinger to PD making them candidates to investigate for early oculomotor abnormalities as PD biomarkers.ObjectivesWe tested whether saccade, pupillary, and blink responses in RBD were similar to PD.MethodsRBD (n = 22), PD (n = 22) patients, and healthy controls (CTRL) (n = 74) were studied with video‐based eye‐tracking.ResultsRBD patients did not have significantly different saccadic behavior compared to CTRL, but PD patients differed from CTRL and RBD. Both patient groups had significantly lower blink rates, dampened pupil constriction, and dilation responses compared to CTRL.ConclusionRBD and PD patients had altered pupil and blink behavior compared to CTRL. Because RBD saccade parameters were comparable to CTRL, pupil and blink brain areas may be impacted before saccadic control areas, making them potential prodromal PD biomarkers. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

Distribution of Visual and Oculomotor Alterations in a Clinical Population of Children with and without Neurodevelopmental Disorders.

A prospective, non-randomized comparative study was conducted to compare the distribution of oculomotor and visual alterations in children with neurodevelopmental disorders and healthy children without such disorders. Sixty-nine children (aged 6–13 years) were enrolled and divided into three groups: a control group (CG) of 23 healthy children; a group of 18 healthy children with oculomotor abnormalities (OAG); and a group of 28 children with a neurodevelopmental disorder (NDDG), with 15 cases of dyslexia, 7 cases of developmental coordination disorder (DCD) and 6 cases of attention deficit/hyperactivity disorder (ADHD). Significantly worse near stereopsis was found in NDDG compared with CG (p < 0.001) and OAG (p = 0.001). Likewise, a significantly lower amplitude of accommodation was found in NDDG compared with CG in both the right (p = 0.001) and left eyes (p < 0.001). No statistically significant differences between groups were found in the measurement of near and distance phoria (p ≥ 0.557), near point of convergence (p = 0.700) and fusional vergences (p ≥ 0.059). Significantly impaired oculomotor test scores were found in NDDG compared with CG (p < 0.001), with no significant differences between OAG and NDDG (p ≥ 0.063). The comparison between the three types of neurodevelopmental disorders included revealed the presence of a significantly lower amplitude of accommodation in children with DCD compared with dyslexics. Furthermore, less exophoria at near was present in children with dyslexia compared with children with ADHD (p = 0.018) and DCD (p = 0.054). In conclusion, children with dyslexia, ADHD and DCD show an altered oculomotor pattern and a more reduced amplitude of accommodation, not always compatible with the diagnostic criteria of an accommodative insufficiency. Accommodative and binocular vision problems are not always present in these children and cannot be considered an etiologic factor.

Preserved eye movements in adults with spinal muscular atrophy.

Spinal muscular atrophy (SMA) most prominently affects proximal limb and bulbar muscles. Despite older case descriptions, ocular motor neuron palsies or other oculomotor abnormalities are not considered part of the phenotype. We investigated oculomotor function by testing saccadic eye movements of 15 patients with SMA. Their performance was compared with that of age-matched healthy controls. Horizontal rightward and leftward saccades were recorded by means of video-oculography, whereas subjects looked at light-emitting diode targets placed at ±5°, ±10°, and ±15° eccentricities. No differences in saccade amplitude gains, peak velocities, peak velocity-to-amplitude ratios, or durations were observed between controls and patients. More specifically, for 5° target eccentricities, patients had a mean saccadic peak velocity of 153°/s, whereas for 10° and 15° these values were 268°/s and 298°/s, respectively. The corresponding mean peak velocities of the control group were 151°/s, 264°/s, and 291°/s. Our results indicate that patients with SMA perform fast and accurate horizontal saccades without evidence of extraocular muscle weakness. These quantitative oculomotor data corroborate clinical experience that neuro-ophthalmic symptoms in SMA are not common and, if present, should prompt suspicion for an alternative neuromuscular disorder.

Association of Chiropractic Colleges Research Agenda Conference 2021 Abstracts of Proceedings.

Association of Chiropractic Colleges Research Agenda Conference 2021 Abstracts of Proceedings.

Headache associated with refractive errors: Characteristics and risk factors.

The purpose of our work was to study the characteristics of Headache associated with refractive errors (HARE)1, and to search for the correlation between headaches characteristics and some risk factors. We aimed also to assess the impact of these headaches on the quality of life of patients. A cross-sectional, retrospective, comparative study including 90 patients followed between August 2019 and January 2020. These patients were divided into two groups: Group 1 including patients presenting headaches due to uncorrected ametropia, and group 2 including control subjects. We studied HARE characteristics, the influence of certain risk factors (profession, triggers factors, characteristics of ametropia, and orthoptic abnormalities) on them, their evolution after one month of treatment, and their impact on patients' quality of life with the HIT-6 score. Headaches due to ametropia were mainly chronic (20.9±15.76 months on average) progressive (100% of cases), daily (90% of cases) predominantly during the second half of the day (82% of cases). They were moderate (64% of cases), with a fronto-orbital topography in 52% of cases. Headaches were compression-type in 36% of cases (18 patients) and pressure-type in 64% (32 patients). The multivariate study retained prolonged screen working (P=0.013), combined ametropias (P=0.001), moderate hyperopia (P=0.01) and astigmatism (P=0.03) to be risk factors of HARE. Headaches induced a substantial to major impact on the quality of life in 68% (34 patients had a score greater than 55), the latter is significantly influenced by the presence of high myopia. After optical correction and orthoptic treatment, we noted an improvement in headache in 100% of cases. The multivariate analysis did not identify any independent factor that impact the evolution of headache at one month. HARE may influence life quality; it needs an appropriate treatment based on risk factor management. A healthy lifestyle in addition to adequate refractive error correction is essential in children and, sometimes in adults. Oculomotor abnormalities treatment leads to improve long term results.

Cerebral palsy rehabilitation - effectiveness of visual stimulation method by analysing the quantitative assessment of oculomotor abnormalities

Cerebral palsy (CP) is a developmental brain abnormality which occur prior to birth or during birth and after delivery. The major health issue for CP children is vision problem. The proposed approach deals with vision dysfunction and oculomotor assessment for diagnosis and treatment of brain disorder. In these approaches, we assessed the oculomotor deficits of CP children by recording the eye movement of 26 CP children (age ranges from 4-14) and the performance was compared with age matched control and we also analysed the CP children eye fixation centroid, smooth pursuit and eyelid blinking activities. From these activities, the movement of the eye provides the window of neuroplasticity for CP children. The oculomotor abnormalities indicating the lesion brain of CP children retains the ability to reorganise. Continuous work process of these vision stimulation task techniques for eye gaze direction approach will improve the cognitive rehabilitation of CP children.

Visual Deficiency in Wallenberg’s Syndrome

The aim of this case report of a 47-year-old woman who suffered from acute right-sided medullar ischemic stroke was to define the range of visual impairment in Wallenberg’s syndrome (WS). The patient complained of unbearable environmental tilt and rotating visual perception. On examination, 11 months following the stroke, the patient manifested rightsided postural inclination and gaze ipsipulsion. The fixation in primary position was unstable, after a conjugate ipsipulsion ensued, spontaneous corrective saccades and a horizontal-rotational jerking nystagmus beating away from the side of the lesion were generated. Monocular visual acuity (right eye: 0.4 logMAR distance and 0.2 logMAR near; left eye: 0.1 logMAR distance and 0.0 logMAR near) was significantly better than binocular (0.63 logMAR distance and near). Fluent reading was impossible. Contralateral smooth pursuits were more impaired. Saccades were defective manifesting right hypermetria and left hypometria. Visual field was constricted to central 10 – 20°. A diagnosis of Wallenberg’s syndrome was made. Occlusion was prescribed. Review of literature demonstrated lack of evidence-based guidelines for ophthalmic assessment and treatment of visual impairment in WS. Oculomotor abnormalities, oscillopsia and tilt illusion cause significant impact to daily life. Early post-stroke ophthalmological evaluation is thus mandatory in order to offer timing treatment.

Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia.

Background and PurposeSpinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and are helpful in differentiating the SCA subtypes. However, there are few reports on the early-stage extracerebellar signs in various SCA subtypes. This study explored the clinical and magnetic resonance imaging (MRI) characteristics of early-stage SCAs in the Korean population.MethodsWe retrospectively reviewed the medical records of genetically confirmed SCA patients with a disease duration of <5 years. Data on baseline characteristics, extracerebellar signs, and initial MRI findings were organized based on SCA subtypes.ResultsThis study included 117 SCA patients with a median age at onset of 40.6 years. The family history was positive in 71.8% of the patients, and the median disease duration and the score on the Scale for the Assessment and Rating of Ataxia at the initial visit were 2.6 years and 5.0, respectively. SCA3 was the most prevalent subtype, and oculomotor abnormalities were the most frequent extracerebellar signs in early-stage SCAs. Saccadic slowing was characteristic of SCA2 and SCA7, and gaze-evoked nystagmus was prominent in SCA6. Parkinsonism was relatively frequent in SCA8 and SCA3. Decreased visual acuity was specific for SCA7. Dementia was not an early manifestation of SCAs. Brain MRI revealed a pattern of pontocerebellar atrophy in SCA2 and SCA7, while SCA6 demonstrated only cerebellar cortical atrophy.ConclusionsSCA patients exhibited diverse extracerebellar signs even in the early stage. Specific extracerebellar signs were characteristic of specific subtypes, which could facilitate differential diagnoses of early-stage SCAs.