BACKGROUND: Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established. CASE REPORT: Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8. CONCLUSIONS: Our findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.
Amyotrophic Lateral Sclerosis* ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Gait ; Humans ; Neurodegenerative Diseases ; Neurons ; Parkinson Disease* ; Parkinsonian Disorders ; Phenotype* ; Siblings ; Spinocerebellar Ataxias ; Spinocerebellar Degenerations ; Trinucleotide Repeats

No abstract available.
Adolescent ; Ataxia Telangiectasia/*genetics ; Ataxia Telangiectasia Mutated Proteins/*genetics ; Base Sequence ; Chromosome Inversion ; Chromosomes, Human, Pair 14/genetics ; Chromosomes, Human, Pair 7/genetics ; DNA Mutational Analysis ; Female ; Humans ; Karyotyping ; Magnetic Resonance Imaging ; Mutation ; RNA Splicing ; Translocation, Genetic

When dealing with a mumps infection, the complication of meningoencephalitis is quite rare. A 24-year-old soldier with a past MMR vaccination was admitted because of aseptic meningitis. His cognitive functioning was rapidly deteriorating with the swelling of both parotid glands. MR findings revealed discrete lesions in the brainstem and thalamus. He barely recovered within 2 months. Among adults with a failure to get the immunity despite vaccination, institutional crowding can lead to a fatal CNS complication such as mumps meningoencephalitis.
Adult* ; Brain Stem ; Crowding ; Humans ; Meningitis, Aseptic ; Meningoencephalitis* ; Military Personnel ; Mumps* ; Parotid Gland ; Thalamus ; Vaccination* ; Young Adult

Background: and Purpose Spinocerebellar 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. Methods: We 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. Results: This 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. Conclusions SCA 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.

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

We would like to correct the degree for the 2nd author.

OBJECTIVES: Cerebral laterality is thought to be an important marker for neurodevelopment. Prenatal testosterone could influence both cerebral laterality and 2nd to 4th finger length ratio(2D:4D). EEG coherence and 2D:4D were examined to investigate the relationship between prenatal testosterone level and cerebral laterality. METHODS: EEG was recorded in 24 healthy subjects in the eyes closed resting state. Differences in 2D:4D finger ratio were used to discriminate "masculine finger type" and "feminine finger type" groups. The 2D:4D ratio was lower and greater than one for the "masculine finger type" group and "feminine finger type" group, respectively. We used coherence analysis to estimate the cortical functional connectivity. RESULTS: There were statistically meaningful relationships among cerebral functional connectivity, sex and finger ratio. Man and masculine finger type group showed higher intra-hemispheric coherence than those of woman and feminine finger type group. Woman and feminine finger type group showed higher inter-hemispheric coherence than those of man and masculine finger type group. CONCLUSIONS: These results imply that prenatal testosterone might act as important determinants of cerebral laterality. Further examination of the relationship between 2D:4D and EEG coherence in schizophrenia could give some clues for the neurodevelopmental hypothesis of schizophrenia genesis.
Electroencephalography ; Eye ; Female ; Fingers ; Humans ; Schizophrenia ; Testosterone

Background: and Purpose Spinocerebellar 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. Methods: We 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. Results: This 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. Conclusions SCA 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.