Alexander disease (AxD) is a progressive neurodegenerative disorder caused by mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Three subtypes of AxD have been identified based on the age of onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). The adult form is rare and presents with unique clinical features different from those of the infantile forms. Here, we present the first Korean case of adult-onset cerebellar ataxia with typical tadpole-like brainstem atrophy on the magnetic resonance imaging (MRI). Molecular genetic analysis revealed a heterozygous missense mutation (c.1246C>T, p.R416W) in the GFAP gene.

BACKGROUND & OBJECTIVE: Stereotaxic injection of 6-hydroxydopamine(6OHDA) into the ventral midbrain is the most commonly used Parkinsonian animal model. In the presence of norepinephrine(NE) uptake blockers, 6OHDA is believed to be selectively toxic to the dopamine(DA) system. However, it was observed in this model that there is a massive fiber degeneration in the fornix, where there are no known DA fibers. There are NE fibers in the fornix arising from the locus ceruleus (LC) terminating in the cerebral cortex including hippocampus. The study was done to examine whether there is a change in the NE system and characterize the neurochemical nature of the previously demonstrated degenerating fornix fibers. METHODS: 6OHDA was injected stereotaxically into the unilateral ventral midbrain in desipramine pretreated rats. DA and NE were measured in the striatum, cortex, hippocampus, and LC. Silver staining was done to demonstrate degenerating neurons and nerve terminals. Immunohistochemistry using tyrosine hydroxylase (TH) and dopamine beta-hydroxylase (DBH) was done to demonstrate catecholamine neurons and nerve fibers. RESULTS: DA was markedly depleted in the ipsilateral striatum. NE was decreased in the striatum, cortex, and hippocampus, but not in the LC. Silver staining showed massive fiber degeneration in the fornix, but did not show degenerating neurons in the LC. TH and DBH Immunohistochemistry failed to show catecholaminergic fibers in the fornix. There was no side difference on immunostaining in the LC neurons. CONCLUSION: 6OHDA Parkinson model does not make selective lesion to the DA system, and damages ascending NE fibers. Neuronal cell bodies in the LC remain intact in this model. The neurochemical nature of the degenerating fornix fibers is not clearly characterized.
Animals ; Cerebral Cortex ; Desipramine ; Dopamine beta-Hydroxylase ; Hippocampus ; Immunohistochemistry ; Locus Coeruleus ; Mesencephalon ; Models, Animal ; Models, Theoretical* ; Nerve Fibers ; Neurons ; Oxidopamine* ; Parkinsonian Disorders* ; Rats ; Silver Staining ; Tyrosine 3-Monooxygenase

Astasia-abasia refers to the inability to stand or walk despite possessing good motor strength and conserved voluntary coordination. Although it is usually regarded as a psychogenic disorder, organic causes have been reported. Herein we describe a patient who presented with alcohol-induced episodic astasia-abasia. Interestingly, SPECT performed during an episode showed hyperperfusion in the dorsal brainstem and subthalamic region. These areas roughly coincide with the mesencephalic locomotor region and subthalamic locomotor region, respectively, and it is conceivable that abnormal neural activity in these areas is related to the symptoms in our patient.

BACKGROUND: Sleep disturbance (SD), parasomnia and excessive daytime sleepiness (EDS) are commonly reported in Parkinson disease (PD). But frequencies and etiological factors are not congruent in different studies. METHODS: We studied those patients who had visited our clinic and had been diagnosed as PD using a structured questionnaire. Disease severity was graded according to Hoehn and Yahr stage into 8 stages. Drug history of the patients is reviewed by medical records. SD is defined to be present when one complains of poor sleep regardless of sleep duration. We define sleep benefiter as those who are 'best' and 'on' in the morning. If one has 10 or more scores on the Epworth sleepiness scale, we regard him/her as having EDS. RESULTS: One hundred PD patients are recruited. Thirty-eight of them complain of sleep disturbance. The patients with SD need longer time to get into sleep, and have shorter sleep duration than those without SD. The average number of sleep fragmentation is higher in SD group. Vivid dreams are the most common parasomnia. Sleep benefiters are 61%. They have less amount of levodopa equivalent dose than non-sleep benefiter. Those with EDS have shorter sleep duration. And there are more snorers in them. CONCLUSIONS: We can confirm that SD, parasomnia and sleep benefit is commonly observed in PD patients.
Dreams ; Humans ; Levodopa ; Medical Records ; Parasomnias ; Parkinson Disease ; Surveys and Questionnaires ; Sleep Deprivation

OBJECTIVE. To examine whether cerebellum participates in motor learning and expresses immediate early gene during motor learning. BACKGROUND. There are increasing evidences that cerebellum plays a role in motor learning. Motor learning such as skill is one of long term memory that produces structural changes associated with immediate early gene expression. METHODS. We destructed mouse cerebellum surgically and compared the motor performance with normal control by using Rota-Rods test. Motor performance was tested on repeated trials to measure learning. We also measured the c-fos mRNA level in the cerebellum at 0, 30, 60 and 120 minutes of motor learning experiment. RESULTS. Motor learning is impaired in the mice with cerebellar lesion. C-fos mRNA level increased in the cerebellum at 30 and 60 minutes during motor learning.
Animals ; Cerebellum* ; Gene Expression ; Learning* ; Memory ; Mice* ; RNA, Messenger

BACKGROUND: Blepharospasm and apraxia of lid opening (ALO) are nonparalytic causes of involuntary eyelid closure (IEC). Recently Aramideh (1994) divided the IEC into 5 groups by electromyography (EMG) study, and reported that each group had different responses to Botulinum A toxin treatment. Objective : We looked whether clinical observation can match the EMG, and possibly predict the response to Botulinum A toxiu treatment. Method : Based on EMG study of Aramideh (1994), clinically observable characteristics of each group were defined. One of the authors reviewed the videotapes of IEC and applied the above criteria to make the clinical diagnosis. Other author blinded to the clinical information performed 2 channel EMG of levator palpebrae superioris (LP) and orbicularis oculi (00) muscles, and made the EMG diagnosis. Clinical and EMG diagnoses were matched. Results : Twenty five patients (5 men and 20 women) were included in the study. Clinically, 16 were diagnosed as group I (blepharospasm), 1 as group 111(combined blepharospasm and LP motor impersistence), 7 as group tV(combined blepharospasm and involuntary LP inhibition), and 1 as group V(involuntary LP inhibition). There were no patient in group ll (combined dystonic activities of LP and 00). On EMG study, 14 were diagnosed as group 1, 2 as group ll, 1 as group 111, 7 as group IV, and 1 as group V The mismatch between the two diagnoseis occurred between group I and tV in 4 patients, group I and ll in 2, and group I and 111 in 2. Conclusions : Clinical observations are generally correct in predicting EMG diagnosis. Holvever groups with mixed features(ll, 111, and Iv) are difficult to diagnose by clinical observation only. Usefulness of clinical and EMG diagnosis on predicting Botulinum A toxin response will need to be evaluated. Key Words : Involuntary eyelid closure, Blepharospasm, Apraxia of lid opening, Electromyography.
Apraxias ; Blepharospasm ; Botulinum Toxins, Type A ; Diagnosis* ; Electromyography ; Eyelids* ; Humans ; Male ; Muscles ; Videotape Recording

Iron-induced oxidative stress has been emphasized in the pathomechanism of Parkinson's disease (PD). Studies on the distribution of iron in the parkinsonian postmortem brain have demonstrated that iron deposition is selectively increased in substantia nigra pars compacta (SNc). This study was done to examine the alteration of nigral iron and ferritin in an animal model of parkinsonism and to understand the role of disturbed iron metabolism as a cause of PD. Hemiparkinsonian model was made by stereotaxically injecting 6-OHDA into the SN of Sprague-Dawley rats. We measured the content and distribution of iron by Perls' staining, and ferritin by immunohistochemical method in the SN. The H & E. cresyl violet, and immunocytochemical stain for glial fibrillary acidic protein, tomato lectin, and cabonic anhydrase-II were done to characterize the exact cell types. Iron content was markedly increased in the hemiparkinsonian model of SNc, not reticulate where normally more iron is distributed. The increased ferritin immunoreactivity was located in the same iron rich area of SNc. The cells with increased iron and ferritin were mainly astrocytes and microglias. 6-OHDA injection into SN resulted in increased free iron and ferritin immunoreactivity, suggesting that iron is important participant in oxidative cell death in PD. We think that increased ferritin in 6 OHDA lesioned SN argues against the hypothesis that decreased ferritin is a prerequisite for the free radical mediated death of nigral neurons in this model.
Animals ; Astrocytes ; Brain ; Cell Death ; Ferritins* ; Glial Fibrillary Acidic Protein ; Iron* ; Lycopersicon esculentum ; Metabolism ; Microglia ; Models, Animal ; Neurons ; Oxidative Stress ; Oxidopamine* ; Parkinson Disease ; Parkinsonian Disorders ; Rats* ; Rats, Sprague-Dawley ; Substantia Nigra ; Viola

Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar degeneration, cancer predisposition, immune defects, radiosensitivity and genetic instability. Ataxia telangiectasia is rare and has not been reported in Korea. We present a 9-year-old girl with early onset progressive cerebellar ataxia. Neurologic examination showed gaze apraxia, bulbar dysfunction, retained tendon reflexes and conjunctival telangiectasia. Alpha-feto protein was elevated and serum IgA was decreased. Brain MRI showed prominent cerebellar atrophy. Literatures were reviewed.
Apraxias ; Ataxia Telangiectasia* ; Ataxia* ; Atrophy ; Brain ; Cerebellar Ataxia ; Child ; Female ; Humans ; Immunoglobulin A ; Korea ; Magnetic Resonance Imaging ; Neurologic Examination ; Radiation Tolerance ; Reflex, Stretch ; Telangiectasis

No abstract available.
Models, Animal* ; Oxidopamine* ; Parkinsonian Disorders*

BACKGROUND: Akathisia is defined as inner feeling or restlessness and can be associated with restless movement. It is a frequent and disabling complication of neuroleptics and was reportedly common in postencephalitic parkinsonism. Akathisia has been reported and appears to be common in Parkinson's disease(PD). OBJECTIVE: To determine the frequency and clinical features of akathisia and dexamine the relationship between presence of akathisia and various clinical parameters of PD, Method: we evaluated 137 PD patients from movement disorder clinics in Samsung Medical Center and Seoul National University Hospital, using a modified akathisia questionnare. We compared two groups between those with akathisia and those without akathisia. We analysed the pattern, location and chronology of akathisia, and the correlation between akathisia and clinical parameters of PD. RESULTS: 1. Of the 137 patients (76 women, 61 men), 43(22 women, 21 men) (31.4%) had akathisia. 2. Patients with akathisia had more advanced disease than those without akathisia as determined by Hoehn and Yahr stage (p<0.05). 3. Patients with akathisia were more often akinetic-rigid than tremor predominent (p<0.05). 4. Patients with akathisia were more frequently treated with levodopa than those without akathisia (p<0.05). 5. There was no difference between two groups for age, sex or disease duration(p<0.05). 6. Of the 43 patients with akathisia, 35 patients had motor restlessness and 27 patients had associated sensory complaints. 7. The whole body or legs were most frequently affected. 8. Akathisic symptoms occurred irregularly and mainly in the afternoon. 9. Nineteen patients had difficulty in their jobs due to akathisia. Conclusion: Akathisia is a common problem in PD especially in severe akinetic-rigid form. It can be the main cause of disability in PD. Recognition and proper management are needed.
Antipsychotic Agents ; Female ; Humans ; Leg ; Levodopa ; Movement Disorders ; Parkinson Disease* ; Parkinson Disease, Postencephalitic ; Psychomotor Agitation* ; Seoul ; Tremor