No abstract available.
Ataxia* ; Diagnosis*

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

Normal micturition is usually accomplished by 3 years of age. We have experienced micturition dysfunction in neurologically and anatomically normal children, but we are embarrassed in identifying the exact cause of each case and searching for the treatment modalities. I thought there was a possibility of lower urinary tract dysfunction as an evoking factor of micturition dysfunction and so I conducted urodynamic study in neurologically and anatomically normal children with micturition dysfunction at Yonsei University Hospital from April, 1984 till December, 1986 and have come to the conclusion as follows ; 1. There was normal urodynamic findings in 9 cases(26.5%) and single abnormal findings in 18 cases(52.9%) which were composed of 6 cases(17.6%) of unstable bladder findings, 2 cases(5.9%) of hypersensitive bladder, 9 cases(26.5%) of high maximum urethral closure pressure and 1 case(2.9%) of detrusor-sphincter dyssynergia and combined abnormal findings in 7 cases(20.6%). High maximum urethral closure pressure finding, which was main abnormal one were found in 13 cases(38.2%), while unstable bladder in 12 cases(35.3%) among 34 children with micturition dysfunction. 2. Among the urodynamic parameters under anesthetic or awaken state, only the mean value of percentage of bladder capacity to normal was significantly higher in anesthetic group than awaken group. 3. Among the urodynamic parameters according to single symptom, all(percentage of bladder capacity to normal, maximum urethral closure pressure) were lower in incontinent group and maximum urethral closure pressure was higher in frequency group, but these differences were not statistically significant. 4. The satisfactory result of conservative treatment was found in 25 cases(73.5%), and was better in the group with single abnormal finding than with combined abnormal finding. In conclusion, the urodynamic study is essential to get the diagnosis and give the treatment accurately, but there should be more technical improvement doing in pediatric age group.
Ataxia ; Child* ; Diagnosis ; Humans ; Urinary Bladder ; Urinary Tract ; Urination* ; Urodynamics*

Adolescent ; Arboviruses ; pathogenicity ; Ataxia ; diagnosis ; virology ; Humans ; Male

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

Central pontine myelinolysis (CPM) is well-recognized osmotic demyelination syndrome that is related to various conditions such as rapid correction of hyponatremia and chronic alcoholism. Acute ataxia as a sole clinical sign in CPM is rare. We report a case of a 59-year-old man with dysarthria, intention tremor, and a significant gait ataxia starting after alcohol withdrawal, with radiological evidence of CPM. CPM should be included in the differential diagnosis of alcoholic patients who develop a sudden ataxia. Chronic alcohol abuse is one of the most commonly encountered predisposing factors. Alcohol withdrawal represents an additional vulnerability factor, being responsible for electrolyte imbalances which are not always demonstrable but are certainly involved in the development of CPM.
Alcoholics* ; Alcoholism ; Ataxia ; Causality ; Demyelinating Diseases ; Diagnosis, Differential ; Dysarthria ; Gait Ataxia ; Humans ; Hyponatremia ; Middle Aged ; Myelinolysis, Central Pontine* ; Tremor

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

Diagnosis of perilymphatic fistula (PLF) is considered in the patient presenting hearing loss associated with ataxia after penetrating injury of the tympanic membrane. PLF accompanies mixed type hearing loss and paralytic nystagmus. If audiovestibular symptoms and signs are not definite for those patients, in whom PLF is highly suspicious, they can be induced by affected ear down position. The direction of nystagmus induced by position change was reported either toward or away from the affected ear. But the direction changing nature has not been noted in the previous literature. We report on a case of traumatic PLF presented with direction changing positional nystagmus and discuss the possible mechanism involved in this case
Ataxia ; Diagnosis ; Ear ; Fistula* ; Hearing Loss ; Humans ; Nystagmus, Physiologic* ; Tympanic Membrane

Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic (EEG) findings of Rett syndrome are nonspecific, but a progressive deterioration in the EEG, characterized by a slowing of background activity and spike sharp wave discharges, may be observed. We experienced one case of Rett syndrome in a 5 year old girl having mental retardation, loss of purposeful hand skills, stereotypic hand movements (clapping, washing, hand-to-mouth), breathing dysfunction (hyperventilation/apnea). Her EEG findings on Video-EEG monitoring are excessive slowing waves during awake state and frequent spike discharges from left or centrotemporal area during sleeping. We report a case of Rett syndrome with brief review of related literatures.
Ataxia ; Child, Preschool ; Diagnosis ; Electroencephalography ; Female ; Hand ; Humans ; Intellectual Disability ; Neurodegenerative Diseases ; Respiration ; Rett Syndrome* ; Seizures

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