Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.
Ataxia ; Atrophy ; Cerebellar Ataxia* ; Cerebellar Diseases ; Diagnosis ; Disease Progression ; Humans ; Mesencephalon ; Neuroimaging ; Paralysis* ; Phenotype ; Retrospective Studies ; Supranuclear Palsy, Progressive

BACKGROUND AND PURPOSE: The etiologies and frequencies of cerebellar ataxias vary between countries. Our primary aim was to determine the frequency of each diagnostic group of cerebellar ataxia patients in a Korean population. METHODS: We reviewed the medical records of patients who were being followed up between November 1994 and February 2016. We divided patients with cerebellar ataxias into familial and non-familial groups and analyzed the frequency of each etiology. Finally, we categorized patients into genetic, sporadic, secondary, and suspected genetic, but undetermined ataxia. RESULTS: A total of 820 patients were included in the study, among whom 136 (16.6%) familial patients and 684 (83.4%) non-familial cases were identified. Genetic diagnoses confirmed 98/136 (72%) familial and 72/684 (11%) nonfamilial patients. The overall etiologies of progressive ataxias comprised 170 (20.7%) genetic, 516 (62.9%) sporadic, 43 (5.2%) secondary, and 91 (11.1%) undetermined ataxia. The most common cause of ataxia was multiple-system atrophy (57.3%). In the genetic group, the most common etiology was spinocerebellar ataxia (152/170, 89.4%) and the most common subtype was spinocerebellar ataxia-3.38 of 136 familial and 53 of 684 sporadic cases (91/820, 11.1%) were undetermined ataxia. CONCLUSIONS: This is the largest epidemiological study to analyze the frequencies of various cerebellar ataxias in a Korean population based on the large database of a tertiary hospital movement-disorders clinic in South Korea. These data would be helpful for clinicians in constructing diagnostic strategies and counseling for patients with cerebellar ataxias.
Ataxia ; Atrophy ; Cerebellar Ataxia* ; Counseling ; Diagnosis ; Epidemiologic Studies ; Friedreich Ataxia ; Humans ; Korea ; Medical Records ; Spinocerebellar Ataxias ; Tertiary Care Centers

Autosomal dominant cerebellar ataxia(ADCA) is an unusual, familial hereditary disorder that ha been called olivopontocerebellar atrophy. ADCA type II is usually accompanied with severely decreased visual acuity and cerebellar ataxia. We experienced a 39 year-old female with ADCA type II who had the severely decreased visual acuity and progressive familial cerebellar ataxia. The diagnosis for ADCA type II was made through several ophthalmic examinations. brain magnetic resonance imaging, and chromosomal study. When ophthalmologists encounter a patient with decreased visual acuity and cerebellar ataxia, this disorder should not be overlooked. We report this unusual case with literature review.
Adult ; Brain ; Cerebellar Ataxia* ; Diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Olivopontocerebellar Atrophies ; Optic Atrophy* ; Visual Acuity

Dentatorubropallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder usually inherited in an autosomal dominant pattern. DRPLA has been shown to be associated with expansion of an unstable cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12p. We evaluated a family with DRPLA that affected three members; A 35-year-old female presented with seven year history of gait ataxia, dysarthria and mild cognitive impairment. The MRI of the brain revealed diffuse cerebellar atrophy with an incidental lipoma in the midbrain. Her 30-year-old brother presented with progressive cerebellar ataxia that developed at the age of 20. Her grandmother and mother were reported to have developed ataxia during the late period of their life, and died at the age of 60 and 55, respectively. The demonstration of an expanded CAG repeat in the gene for DRPLA was used to confirm the diagnosis.
Adult ; Ataxia ; Atrophy* ; Brain ; Cerebellar Ataxia ; Diagnosis ; Dysarthria ; Female ; Gait Ataxia ; Genes, vif ; Humans ; Lipoma ; Magnetic Resonance Imaging ; Mesencephalon ; Mild Cognitive Impairment ; Mothers ; Neurodegenerative Diseases ; Siblings ; Trinucleotide Repeats

OBJECTIVES: There is increasing evidence that the cerebellum plays an important role in cognition and psychiatric symptoms as well as motor coordination. The concept of cognitive dysmetria has been making cerebellar function in schizophrenia the focus of current studies. In other words, disruption in the cortico-cerebellum-thalamic -cortical circuit could lead to disordered cognition and clinical symptoms of schizophrenia. The purposes of this study were to determine cerebellar dysfunction in male schizophrenic patients semiquantitatively with ICARS and to investigate the clinical and cognitive correlates of ICARS in patients. METHODS: We compared the scores of cerebellar neurologic sign using ICARS in 47 male patients with a DSM-IV-TR diagnosis of schizophrenia with 30 gender and age-matched healthy control subjects. The semiquantitative 100-point ICARS consists of 19 items divided into 4 unequally weighted subscores: posture and gait disturbances, kinetic functions, speech disorders and oculomotor disorders. All subjects were also assessed with cognitive function test. Cognitive functions were evaluated by Korean-Mini Mental Status Examination(K-MMSE), Verbal fluency test, and Clock drawing test. The patients were administered Korea version of Positive and Negative Symptom Scale(K-PANSS) to assess the symptom severity. RESULTS: Schizophrenic patients had significantly higher scores on the ICARS than control subjects with posture and gait disturbances, kinetic functions, and oculomotor disorders. They also showed more significant impairments in cognitive function tests than control subjects. There was a significant correlation between ICARS and negative symptoms of patients. In cognitive function test, Clock drawing test was significantly associated with negative symptoms. In addition, Clock drawing test was negatively correlated with the total score of ICARS. CONCLUSION: In this study, we confirmed that schizophrenic patients have significant impairments in cognitive and cerebellar function, and that those were related with negative symptoms of schizophrenic patients. These results support a role of the cerebellum in schizophrenia. It is meaningful that we used a structured, and reliable procedure for rating neurological soft signs, ICARS. We hope that future prospective studies using a similar design help that rate of neurological sign should have been visible with the progression of illness.
Cerebellar Ataxia ; Cerebellar Diseases ; Cerebellum ; Cognition ; Diagnosis ; Gait ; Hope ; Humans ; Iron-Dextran Complex ; Korea ; Male ; Neurologic Manifestations ; Posture ; Schizophrenia ; Speech Disorders

Clinically, multiple system atrophy is difficult to differentiate from other basal ganglia disorders such as idiopathic Parkinson's disease or other types of cerebellar ataxia. The "hot cross bun"sign is a radiological sign which, it has been claimed, is highly specific for multiple system atrophy, and we describe four cases in which this sign occurred. In one patient, multiple system atrophy was clinically diagnosed, but in the other three, the respective clinical diagnosis was spinocerebellar ataxia type 1, type 2 (genetically), and old cerebellar hemorrhage. We therefore suggest that the hot cross bun sign reflects degeneration of transverse pontocerebellar fibers and is not a pathognomic sign of multiple system atrophy.
Basal Ganglia Diseases ; Cerebellar Ataxia ; Diagnosis ; Hemorrhage ; Humans ; Magnetic Resonance Imaging* ; Movement Disorders* ; Multiple System Atrophy ; Parkinson Disease ; Spinocerebellar Ataxias

A case of 10 months old Korean female infant with congenital binocular cataracts, posterior fossa cyst, and macrodactyly simulating Marinesco-Sjogren Syndrome is presented. The diagnosis of the posterior fossa cyst was added by brain computerized tomogram, conray ventriculogram and vertebral angiogram. The studies demonstrated marked hydrocephalus with a huge posterior fossa cyst displacing 4 th ventricle and cerebellum anteriorly. The cyst was also extending upward displacing the tentorium superiorly. Following ventriculoperioneal shunt an exploration of the cyst was performed. The cerebellar hemispheres and vermis were appeared to be atrophic and displaced anteriorly due to the cyst. The histologic study of the biopsied cyst wall was normal arachnoid membrane. The authors assume that some of the reported cases of Marinesco- sjogren Syndrome could have similar cystic lesion which was found in this case to cause cerebellar ataxia and mental retardation.
Arachnoid ; Brain ; Cataract* ; Cerebellar Ataxia ; Cerebellum ; Diagnosis ; Female ; Humans ; Hydrocephalus ; Infant ; Intellectual Disability ; Membranes ; Sjogren's Syndrome ; Spinocerebellar Degenerations* ; Telescopes*

Clinical features of corticobasal degeneration (CBD) can be characterized by an asymmetric akinetic-rigid syndrome with variable combinations of other deficits (corticospinal tract signs, supranuclear gaze palsy, cerebellar ataxia, cortical sensory loss, alien limb behavior, dystonia and myoclonus). Such unique combination of clinical features of CBD have lead to the general agreement that clinical diagnosis of CBD is reliable. We describe 6 patients presenting with clinical features compatible with CBD. Three had characteristic clinical features of CBD; one showed clinical features compatible with progressive supranuclear palsy, but also had apraxia and cortical sensory disturbances; one had an early CBD. The remaining one had clinical features compatible with CBD, but brain magnetic resonance imaging study showed multiple small lesions involving periventricular white matter and basal ganglia bilaterally.
Apraxias ; Basal Ganglia ; Brain ; Cerebellar Ataxia ; Diagnosis ; Dystonia ; Emigrants and Immigrants ; Extremities ; Humans ; Magnetic Resonance Imaging ; Paralysis ; Supranuclear Palsy, Progressive

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a slowing progressive ataxic disorder characterized by bilateral vestibulopathy, cerebellar ataxia and somatosensory impairment. Autonomic dysfunction is recently considered as a core feature in CANVAS in addition to these symptoms. In most cases, patients with CANVAS show cerebellar atrophy in brain imaging, but some cases show minimal or no atrophy of cerebellum. Brain (18F)-fluoro-2-deoxy-D-glucose positron emission tomography (¹⁸F-FDG PET) study can be a complimentary tool to diagnosis CANVAS in cases of no structural abnormality such as cerebellar atrophy. Hereby, we present a case of CANVAS with minimal atrophy of cerebellum but showing a prominent hypometabolism in cerebellum, thalamus and posterior cingulate cortex in ¹⁸F-FDG PET.
Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Diagnosis ; Gyrus Cinguli ; Humans ; Neuroimaging ; Positron-Emission Tomography ; Primary Dysautonomias ; Thalamus ; Vestibular Neuronitis

Chronic post-hypoxic myoclonus, also known as Lance-Adams syndrome (LAS), is a rare complication of successful cardiopulmanry resuscitation often accompanied by action myoclonus and cerebellar ataxia. It is seen in patients who have undergone a cardiorespiratory arrest, regained consciousness afterwards, and then developed myoclonus days or weeks after the event. Worldwide, 122 cases have been reported in the literature so far, including 1 case of Chinese. Here we report 2 Chinese LAS patients with detailed neuroimagings. Cranial single photon emission computed tomography (SPECT) of patient 1, a 52-year-old woman, showed a mild hypoperfusion in her left temporal lobe, whereas patient 2, a 54-year-old woman, manifested a mild bilateral decrease of glucose metabolism in the frontal lobes and a mild to moderate decrease of the N-acetyl aspartate (NAA) peak in the bilateral hippocampi by cranial [(18)F]-fluorodeoxyglucose positron emission tomographic (PET) scan and cranial magnetic resonance spectroscopy (MRS), respectively. We also review the literature on the neuroimaging, pathogenesis, and treatment of LAS.
Cardiopulmonary Resuscitation ; adverse effects ; Cerebellar Ataxia ; diagnosis ; etiology ; Female ; Humans ; Hypoxia-Ischemia, Brain ; diagnosis ; etiology ; Middle Aged ; Myoclonus ; diagnosis ; etiology ; Syndrome