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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.
RESUMO
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.
RESUMO
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
RESUMO
OBJECTIVES: Hyposexuality is defined as diminished sexual drive or libido. There has been little research into the sexuality in patients with obstructive sleep apnea (OSA). We investigated the prevalence and relating factors for hyposexuality in OSA men. METHODS: Consecutive 182 male (mean age 48.3 y) were enrolled who were newly diagnosed with OSA through polysomnography. All completed Symptom checklist-90-Revised (SCL-90-R), Epworth Sleepiness Scale (ESS), Beck Depression Inventory (BDI), and Beck Anxiety Inventory (BAI). Subjects were divided into non-hyposexuality (score 0) and hyposexuality (score > or =1) groups according to the question "Loss of sexual interest or pleasure" in SCL-90-R. RESULTS: 110 of 182 subjects (60.4%) answered hyposexuality (score > or =1). Significant correlations were found between hyposexuality and following factors; age (rho=0.248), BDI (rho=0.450), BAI (rho=0.410), ESS (rho=0.221), and percentage of non-REM stage 3 (N3%) (rho=-0.184). Apnea-hypopnea index was significantly correlated with nocturia (rho=0.320), ESS (r=0.230), N1% (r=0.596), N2% (r=-0.540), N3% (r=-0.195), and lowest oxygen saturation (r=-0.641). Comparing two groups, hyposexuality group showed significantly lowered total sleep time (380.2 min vs. 359.1 min), and sleep efficiency (83% vs. 76%). The severity of hyposexuality was correlated with BDI (rho=0.330), BAI (rho=0.253), and N3% (rho=-0.215) in subjects with hyposexuality. After controlling for age, polysomnographic parameters were not correlated with hyposexuality. CONCLUSIONS: About half of untreated OSA male subjects reported diminished libido. Age, daytime sleepiness, mood disorders, and decreased sleep quality were associated with hyposexuality. Of these, aging process was the most important factor for hyposexuality.