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: The purposes of this study were (1) to investigate the abilities of word definition in patients with Alzheimer's disease (AD) according to the severity, and (2) to examine the error patterns in patients with Alzheimer's disease. METHODS: Eight individuals with MCI (CDR=0.5) and 16 patients with AD (eight for probable AD mild group of CDR=1 and eight for probable AD moderate group of CDR=2) participated in the study. Eight normal age-, gender-, and education-matched elderly adults served as a control group for the MCI and AD groups. As stimuli for the word definition, eleven semantic categories were used, and two concrete words were selected from each category, resulting in a total of 22 items. Prior to the task, four definition categories were provided: 1) functional, 2) relational, 3) perceptual, and 4) categorical. Statistical analyses were performed using Kruskal-Wallis test, and Bonferroni analyses were used as a post-hoc comparison for any significant results. RESULTS: There were significant differences in word definition scores among four groups. The probable AD moderate group showed the lower definition score than the probable AD mild group. And the probable AD moderate group showed the lower definition score than MCI group. Each group defined words in different ways. While the control group employed four definition different categories equally, the probable AD moderate group used a functional definition category mainly. However, relational and categorical definition categories were rarely observed in the probable AD moderate group. The analysis of error pattern showed that inadequate definition was frequently observed in all groups. CONCLUSIONS: The results from this study suggest that word definition task could be a sensitive indicator of the impairment of semantic knowledge in patients with AD.
Adult ; Aged ; Alzheimer Disease* ; Humans ; Mild Cognitive Impairment ; Semantics

BACKGROUND: The evaluation of behavioral and psychological symptoms (BPS) in ALS is important because its existence may serve as a prognostic factor and suggest a shared pathology with frontotemporal dementia (FTD) in ALS. In this study, we sought to identify the prevalence of the BPS of ALS patients and evaluate its relationship with the clinical profiles and survival of ALS patients. METHODS: One hundred sixty-six patients were enrolled in a cross-sectional cohort analysis from September 2008 to February 2012. All patients had sporadic ALS without a genetic mutation and were collected clinical profiles. The t-test and chi-square test were used to assess differences in the clinical characteristics and caregiver-administered neuropsychiatric inventory (CGA-NPI) scores. The Kaplan-Meier method and Cox proportional hazard model were used for the survival analysis. RESULTS: Forty-two patients had clinically significant BPS (42/166, 25.3%). ALS patients with BPS had worse clinical dementia rating (CDR), ALS Functional Rating Scale-Revised (ALSFRS-R) score, and progression rate of disease than those without BPS. Among CGA-NPI subscales, depression, irritability, apathy, and agitation were higher prevalent than the others. There was a trend for ALS patients with BPS having short survival time than those without BPS in the Kaplan-Meier analysis (p=0.006). However, in the Cox proportional hazard model, BPS in ALS patients were not associated with poor survival. CONCLUSION: These results support the presence of an overlapping spectrum between ALS and FTD and emphasize the importance of neuropsychiatric evaluations in ALS. Although the association between BPS and prognosis are not explained clearly, these results could be used to stratify ALS patients according to neuropsychiatric symptoms and help investigators to evaluate the BPS in ALS patients.
Amyotrophic Lateral Sclerosis* ; Apathy ; Cohort Studies ; Dementia ; Depression ; Dihydroergotamine ; Frontotemporal Dementia ; Humans ; Kaplan-Meier Estimate ; Pathology ; Prevalence ; Prognosis ; Proportional Hazards Models ; Research Personnel

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BACKGROUND: As rapidly progressive dementia (RPD), general paresis and Creutzfeldt-Jakob disease (CJD) may have overlapping clinical presentation due to a wide variety of clinical manifestations. CASE REPORT: A 57-year-old man presented with rapid progressive cognitive decline, behavioral change, ataxic gait, tremor and pyramidal signs for 3 months. In addition to these multiple systemic involvements, positive result for the cerebrospinal fluid (CSF) 14-3-3 protein tentatively diagnosed him as probable CJD. However, due to increased serum rapid plasma reagin, venereal disease research laboratory, and fluorescent treponemal antibody-absorption reactivity in CSF, the final diagnosis was changed to general paresis. CONCLUSIONS: A patient with RPD needs to be carefully considered for differential diagnosis, among a long list of diseases. It is important to rule out CJD, which is the most frequent in RPD and is a fatal disease with no cure. Diagnostic criteria or marker of CJD, such as 14-3-3 protein, may be inconclusive, and a typical pattern in diffusion-weighted imaging is important to rule out other reversible diseases.
14-3-3 Proteins ; Cerebrospinal Fluid ; Creutzfeldt-Jakob Syndrome* ; Dementia ; Diagnosis ; Diagnosis, Differential ; Gait ; Humans ; Middle Aged ; Neurosyphilis* ; Plasma ; Sexually Transmitted Diseases ; Tremor

BACKGROUND: Frontotemporal dementia (FTD) with motor neuron disease (MND) is a syndrome of progressive changes in behavior, language, muscle weakness and atrophy due to loss of function of neurons in the frontal and temporal lobes and in motor neurons. Etiology and pathogenesis of FTD with MND are still uncertain. CASE REPORT: A 71-year-old man presented with a 2-year history of progressive muscle weakness and cognitive deficits. We diagnosed this patient as FTD with MND by neurological examination, electromyography, brain imaging and neuro-psychological evaluation. We also confirmed antiphospholipid syndrome (APS) in this patient as a way to rule out secondary causes of MND. CONCLUSIONS: This was a very rare case of FTD with MND in APS. We should focus study on the possible role of autoimmune pathogenesis in FTD with MND.
Aged ; Antiphospholipid Syndrome* ; Atrophy ; Cognition Disorders ; Electromyography ; Frontotemporal Dementia* ; Humans ; Motor Neuron Disease* ; Motor Neurons* ; Muscle Weakness ; Neuroimaging ; Neurologic Examination ; Neurons ; Temporal Lobe

BACKGROUND AND PURPOSE: Many literatures indicate that executive dysfunction exists in mild cognitive impairment (MCI) as well as Alzheimer’s disease (AD). However, there are few studies that found how early the deficits of the executive function (EF) exist in MCI. The present study investigated the presence of executive dysfunctions in the earliest stage of MCI, and the sub-domains of EF which are disproportionately impaired earlier than others. METHODS: The participants were 41 normal elderly (NE), 86 with amnestic multi-domain MCI, and 41 with mild AD. The MCI group was further sub-divided into two groups: Early MCI (EMCI, n=45) and late MCI (n=41), based on the Clinical Dementia Rating-Sum of Boxes. All participants were given neuropsychological tests to assess the sub-domains of EF, such as verbal fluency, psychomotor speed, inhibitory control, and mental set-shifting. RESULTS: Impairment of semantic fluency was observed in EMCI, with gradual worsening as cases approached mild AD. Phonemic fluency and psychomotor speed were also impaired at the early stage of MCI relative to the NE, but maintained at the same level up to mild AD. EMCI exhibited the same degree of performance with NE for inhibitory control and mental set-shifting; however, they progressively worsened from EMCI to mild AD. CONCLUSIONS: These results suggest that impairments of EF exist even in the earliest stage of the MCI, with a disproportionate decline in the sub-domains of EF.
Aged ; Alzheimer Disease* ; Dementia ; Executive Function* ; Humans ; Mild Cognitive Impairment* ; Neuropsychological Tests ; Semantics

BACKGROUND AND PURPOSE: This study was designed to evaluate the effect on sleep of rivastigmine transdermal patch in patients with probable Alzheimer's disease (AD). METHODS: Patients with probable AD underwent a sleep questionnaire, overnight polysomnography and neuropsychological tests before and after rivastigmine transdermal patch treatment. We analyzed the data from enrolled patients with AD. RESULTS: Fourteen patients with probable AD were finally enrolled in this study. The respiratory disturbance index after the rivastigmine patch treatment was improved in patients with probable AD and sleep breathing disorder, compared with that of before treatment (p<0.05). CONCLUSIONS: Rivastigmine transdermal patch application are expected to improve the symptoms of sleep disordered breathing in patients with probable AD. Further placebo controlled studies are needed to confirm these results.
Alzheimer Disease* ; Humans ; Neuropsychological Tests ; Polysomnography ; Respiration ; Rivastigmine* ; Sleep Apnea Syndromes* ; Transdermal Patch*

BACKGROUND AND PURPOSE: Although subjective cognitive impairment (SCI) is often accompanied by Parkinson's disease (PD) and may predict the development of mild cognitive impairment or dementia, longitudinal brain perfusion changes in PD patients with SCI remain to be elucidated. The current prospective study examined cerebral perfusion changes in PD patients with SCI using technetium-99m hexamethylpropylene amine oxime single photon emission computed tomography (SPECT). METHODS: Among 53 PD patients at baseline, 30 patients were classified into the PD with SCI group and 23 patients were assigned to the PD without SCI group. The mean follow-up interval was 2.3±0.9 years. The Mini-Mental State Examination, Clinical Dementia Rating, and Global Deterioration Scale were used to assess impairments in cognitive function. Brain SPECT images were acquired at baseline and follow-up. RESULTS: Significant differences between the two groups were not found for demographic variables, PD severity, or cognitive function at either baseline or follow-up. At baseline, the PD with SCI group showed decreased perfusion in the left angular gyrus compared to the PD without SCI group. Longitudinal analysis revealed widespread perfusion reductions primarily in the bilateral temporo-parieto-occipital areas and cerebellum in the PD with SCI group. Relative to the PD without SCI group, an excessive decrease of perfusion was found in the left middle frontal gyrus of the PD with SCI patients. CONCLUSIONS: Our findings suggest that perfusion deficits in the middle frontal area may play an important role in the pathophysiology of SCI in PD.
Brain ; Cerebellum ; Cognition ; Cognition Disorders* ; Dementia ; Follow-Up Studies ; Humans ; Mild Cognitive Impairment ; Parietal Lobe ; Parkinson Disease* ; Perfusion* ; Prospective Studies ; Tomography, Emission-Computed, Single-Photon

BACKGROUND AND PURPOSE: The relationship between the side of motor symptoms and cognitive impairment has rarely been reported in Parkinson’s disease (PD). We aimed to estimate the influence of motor laterality on cognition in PD patients. METHODS: We enrolled 67 patients with PD, and they were divided into two groups according to side of symptom onset or predominant motor symptom presentation (right and left). Right-sided PD (RPD, 40) and left-sided PD (LPD, 27) patients underwent a neuropsychological battery exploring memory, attention/working memory, frontal/executive, visuospatial, and language functions. Student's t-test and Chi-square test have been carried out to compare the clinical and neuropsychological data between two groups. RESULTS: There were no significant differences in any neuropsychological test between the RPD and LPD groups, except for digit forward span test. RPD patients scored lower on the digit forward span test than LPD patients (5.43±9.49 vs. 6.15±1.38, p=0.045). CONCLUSIONS: RPD patients seem to experience more difficulties in attention and working memory than did LPD patients. The laterality of motor symptoms is not a major determinant for cognitive impairment in PD patients but, we should consider differences of cognitive deficits depending on the side of motor symptoms to treat patients with PD.
Cognition ; Cognition Disorders* ; Humans ; Memory ; Memory, Short-Term ; Neuropsychological Tests ; Parkinson Disease*