Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia, is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. We now report the first Korean familial case of SCA8 confirmed by genetic study.
Adult ; Blepharospasm ; Cerebellar Ataxia ; Dysarthria ; Gait Ataxia ; Humans ; Spinocerebellar Ataxias*

No abstract available.
Ataxia* ; Atrophy* ; Cerebellar Ataxia ; Spinocerebellar Ataxias*

This is a case of a boy with autosomal dominant cerebellar ataxia (SCA type 2), which was confirmed by DNA analysis. A 9-year-old boy had been suffering from tremor in both arm and leg for 5 years. After traffic accident, a year ago, the symtoms were more aggravated, and he visted our hospital. The boy showed slow saccades, decreased DTR, ataxic gait and limb ataxia. We analyzed DNA repetition, which revealed positive for the SCA2 expanded repeat.
Accidents, Traffic ; Arm ; Ataxia ; Cerebellar Ataxia ; Child ; DNA ; Gait ; Humans ; Leg ; Male ; Saccades ; Spinocerebellar Ataxias* ; Tremor ; Trinucleotide Repeats

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. There are more than 35 different types of spinocerebellar ataxias, each caused by a different genetic mutation. Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. The age at onset varies from 3 to 79 years (mean 33). Usually, the first symptom of the disease is the gait ataxia, followed by the cerebellar dysarthria. Of late, other clinical manifestations of SCA2 are the cognitive dysfunctions, which include frontal executive impairment, verbal short-term memory deficits as well as reduction of attention and concentration. We report a 56-year old woman identified as spinocerebellar ataxia type 2 (SCA2) with only clinical feature of memory impairment.
Ataxia ; Cerebellar Ataxia ; Chorea ; Dysarthria ; Eye Movements ; Female ; Gait ; Gait Ataxia ; Hand ; Humans ; Memory* ; Memory, Short-Term ; Middle Aged ; Ophthalmoplegia ; Saccades ; Spinocerebellar Ataxias*

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. METHODS: Detailed clinical investigations were carried out on probands in two consanguineous families. Magnetic resonance imaging was performed. Exome sequencing data were examined for likely pathogenic variants. Candidate variants were checked for cosegregation with the phenotype using Sanger sequencing. Public databases including ExAC, GnomAD, dbSNP, and the 1,000 Genome Project as well as ethnically matched controls were checked to determine the frequencies of the alleles. Conservation of missense variants was ensured by aligning orthologous protein sequences from diverse vertebrate species. RESULTS: Reverse phenotyping identified spinocerebellar ataxia, autosomal recessive 1 [OMIM 606002, also referred to as ataxia oculomotor apraxia type 2 (AOA2)] and ataxia telangiectasia (OMIM 208900) in the two families. A novel homozygous missense mutation c.202 C>T (p.Arg68Cys) was identified within senataxin, SETX in the DNA of both patients in one of the families with AOA2. The patients in the second family were homozygous for a known variant in ataxia-telangiectasia mutated (ATM) gene: c.7327 C>T (p.Arg2443Ter). Both variants were absent from 100 ethnically matched control chromosomes and were either absent or present at very low frequencies in the public databases. CONCLUSIONS: This report extends the allelic heterogeneity of SETX mutations causing AOA2 and also presents an asymptomatic patient with a pathogenic ATM variant.
Alleles ; Apraxias* ; Ataxia Telangiectasia ; Ataxia* ; Cerebellar Ataxia ; DNA ; Exome ; Genome ; Humans ; Magnetic Resonance Imaging ; Movement Disorders ; Mutation, Missense ; Neurodegenerative Diseases ; Pakistan ; Phenotype ; Population Characteristics ; Spinocerebellar Ataxias ; Vertebrates

The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.
Arm ; Azores ; Cerebellar Ataxia ; Chromosomes, Human, Pair 14 ; Continental Population Groups ; Diagnosis ; Dysarthria ; Gait Ataxia ; Humans ; Islands ; Machado-Joseph Disease* ; Neurodegenerative Diseases ; Ophthalmoplegia ; Peripheral Nervous System Diseases ; Pyramidal Tracts ; Trinucleotide Repeats ; Wills

The spinocerebellar ataxia are a heterogeneous group of neurodegeneative disorders varying in both clinical manifestations and mode of inheritance. Recently, CAG trinucleotide repeats have been identified in inherited neurodegenerative disease such as dentrorubopallidoluysian atrophy, spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD) and SCA3. Individuals with SCA3 are phenotypically similar to those with SCA1 and, like MJD, the locus is linked to genetic markers on chromosome 14q24.3-qter. We experienced 38 year old man who presented with slowly progressive cerebellar dysfunction. Family history was not remarkable. We could not observe orofacial fasciculation, ophthalmoplegia, optic atrophy, peripheral neuropathy, amyotrophy, or dystonia. We peformed genomic polymerase chain reaction (PCR) analysis with patient's blood samples using the following primers: MJD52 (5'-CCAGTGAC TACTTTGATTCG-3') and MJD25 (3'-AAGTGTAGGTACACTTTCCGGT-5'). We found that his gene contained expanded CAG repeats (CAG repeat number was 69). We reported a clinically suspected sporadic case of genetically confirmed SCA3 who shared a similar genetic mutation with MJD and similar clinical presentation with SCA1. To our knowledge, this is the first case report on SCA3 in Korea. We think that the further genetic study with his family members should be done to evaluate mode of inheritance in this case.
Adult ; Ataxia ; Cerebellar Diseases ; Dystonia ; Fasciculation ; Genetic Markers ; Humans ; Korea ; Machado-Joseph Disease* ; Neurodegenerative Diseases ; Ophthalmoplegia ; Optic Atrophy ; Peripheral Nervous System Diseases ; Polymerase Chain Reaction ; Spinocerebellar Ataxias* ; Trinucleotide Repeats ; Wills*

The possibility of a central origin should be considered for late-onset concomitant esotropia. Concomitant esotropia has been reported to occur with spinocerebellar ataxia types 1, 2, and 3, but not with other degenerative cerebellar ataxia disorders. We report on a 28-year-old woman with ataxia in whom a detailed ophthalmologic examination revealed concomitant esotropia. She was subsequently diagnosed with dentatorubropallidoluysian atrophy (DRPLA). We suggest that the presence of concomitant esotropia could be used to differentiate DRPLA from other hereditary ataxias.
Adult ; Ataxia ; Atrophy ; Cerebellar Ataxia ; Esotropia ; Female ; Humans ; Spinocerebellar Ataxias ; Spinocerebellar Degenerations

We experienced two suspected cases of hereditary cerebellar ataxia of ten years and right years aged boys who brothers. The patients manifested progressive wide base ataxic gait, incordination, intention tremor, impaired balance and dysarthria. A bries review of related literature is also presented.
Cerebellar Ataxia* ; Dysarthria ; Gait ; Humans ; Siblings* ; Tremor

Early onset cerebellar ataxia with retained tendon reflexes is clinical syndrome characterized by progressive cerebelar ataxia of unknown etiology with an onset within the first two decades. This disorder was distinguished from Friedreich's ataxia by the preservation of the tendon reflexes. We have experienced a case of early onset cerebellar ataxia with retained tendon reflexes which was diagnosed by clinical features, eletrophysiologic studies, and MRI scan. This 8 year-old male patient had suffered from gait ataxia with delayed growth and development since 3 years of age. A brief review of the related literatures was also made.
Ataxia ; Cerebellar Ataxia ; Child ; Friedreich Ataxia ; Gait Ataxia ; Growth and Development ; Humans ; Magnetic Resonance Imaging ; Male ; Reflex, Stretch* ; Spinocerebellar Degenerations* ; Tendons*