OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Adult ; Age of Onset ; Alleles ; Basal Ganglia ; Brain ; Dystonia ; Freezing ; Gait ; Gene Frequency ; Genetic Association Studies ; Humans ; Iron ; Korea ; Movement Disorders ; Neurodegenerative Diseases ; Pantothenate Kinase-Associated Neurodegeneration* ; Parkinsonian Disorders ; Phenotype ; Population Characteristics* ; Referral and Consultation ; Weather

Clinically, multiple system atrophy is difficult to differentiate from other basal ganglia disorders such as idiopathic Parkinson's disease or other types of cerebellar ataxia. The "hot cross bun"sign is a radiological sign which, it has been claimed, is highly specific for multiple system atrophy, and we describe four cases in which this sign occurred. In one patient, multiple system atrophy was clinically diagnosed, but in the other three, the respective clinical diagnosis was spinocerebellar ataxia type 1, type 2 (genetically), and old cerebellar hemorrhage. We therefore suggest that the hot cross bun sign reflects degeneration of transverse pontocerebellar fibers and is not a pathognomic sign of multiple system atrophy.
Basal Ganglia Diseases ; Cerebellar Ataxia ; Diagnosis ; Hemorrhage ; Humans ; Magnetic Resonance Imaging* ; Movement Disorders* ; Multiple System Atrophy ; Parkinson Disease ; Spinocerebellar Ataxias

Multiple-system atrophy (MSA) is an adult-onset, sporadic, progressive neurodegenerative disease. Clinically, the cardinal features include autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination, of which autonomic failure is an integral component in the diagnosis. Pathologically, MSA is characterized by alpha-synuclein-positive glial cytoplasmic inclusions and neuronal loss, predominantly in the basal ganglia, brainstem, cerebellum, and intermediolateral cell columns of the spinal cord. We report the first case of MSA confirmed by autopsy in Korea.
Atrophy ; Autopsy ; Basal Ganglia ; Brain Stem ; Cerebellar Ataxia ; Cerebellum ; Inclusion Bodies ; Korea ; Multiple System Atrophy ; Neurodegenerative Diseases ; Neurons ; Parkinsonian Disorders ; Spinal Cord

We compared heavily T2W high field MR images of 18 Parkinson's disease (PD group), 8 Parkinsonian syndromes (PS group: progressive supranuclear palsy, OPCA, Shy-Drager syndrome, atypical' parkinsonism), and 20 control patients and exaimined the reported abnormalities (putaminal hypointensity, restoration of the signal intensity of the substantia nigra, narrowing of the pars compacta, brain atrophy) in our patients by 2.0 Tesla MRI. In this study, the narrowing of the signal band from the pars compacta of the substantia nigra was the most valuable index differentiating PD group or PS group from control group and the signal restoration of the substantia nirga was more common in PD than PS or control group. The frequency of putaminal hypointensity and brain atrophy increased with aging and brainstem atrophy was observed in only PS group.
Aging ; Atrophy ; Brain ; Brain Stem ; Humans ; Magnetic Resonance Imaging* ; Parkinson Disease* ; Parkinsonian Disorders* ; Shy-Drager Syndrome ; Substantia Nigra ; Supranuclear Palsy, Progressive

Wilson's disease is associated with abnormal deposition of copper in the brain, liver, kidneys and other body tissues, apparently due to an inherited defect in copper metabolism. Clinically the disorder is manifested by signs and symptoms of basal ganglia disease, postnecrotic hepatic cirrhosis, Kayser-Fleischer rings, hypoceruloplasminemia, hypocupremia, hypouricemia, cupruresis, and aminoaciduria. The authors experienced a case of Wilson's disease showing the characteristic signs such as Kayser-Fleischer rings, dysarthria, dysphagia and muscular rigidity, without any signs of liver involvement. A review of this case is provided with the literature.
Basal Ganglia Diseases ; Brain ; Copper ; Deglutition Disorders ; Dysarthria ; Hepatolenticular Degeneration* ; Kidney ; Liver ; Liver Cirrhosis ; Metabolism ; Muscle Rigidity

Background & Significance : Hallervorden-Spatz disease (HSD) is a rare neurologic disorder characterized by progressive dystonia, retinal degeneration, pyramidal sign, and mental deterioration. The neuropathological findings include preferential deposition of iron within the extrapyramidal nuclei, including globus pallidus, substantia nigra, and red nuclei. The final diagnosis depends on the typical pathologic findings. MRI brain imaging study commonly shows so-called "eye-of-the-tiger" in the globus pallidus. However 1H-MRS findings of HSD have not been reported. We experienced a case with clinically suspicious HSD whose diagnosis was further supported by 1H-MRS. Case : A forty four year-old man presented with slowly progressive dystonia for six years. He had been well until age of thirty eight, when he noticed clumsy hand-writing. Three years later, he developed difficulty in chewing. Clumsiness of his hands and arm movements progressed to the point of difficulty in using spoon and chopsticks. While walking, arm swing was decreased and both arms and neck took more dystonic posture. Brain MRI (T2Wl) showed symmetric high signal intensity lesions in the globus pallidus, surrounded by a peripheral zone of exaggerated low signal. On 1H-MRS of basal ganglia, although choline, creatine and N-acetyl-aspartate (NAA) peaks were detected, marked noise probably due to paramagnetic substance (iron), made quantitative analysis difficult. Conclusion : 1H-MRS of HSD is characterized by "noise", which may be suggestive of HSD.
Adult* ; Arm ; Basal Ganglia ; Brain ; Choline ; Creatine ; Diagnosis ; Dystonia ; Globus Pallidus ; Hand ; Humans ; Iron ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy* ; Mastication ; Neck ; Nervous System Diseases ; Neuroimaging ; Noise ; Pantothenate Kinase-Associated Neurodegeneration* ; Posture ; Protons* ; Retinal Degeneration ; Substantia Nigra ; Walking

BACKGROUND: Although several investigators have been studying EMG activity in projected movment, a complete and satisfactory understanding of the EMG patterns is still lacking. This present study is an attempt to define these patterns for certain stereotyped movement in a normal population, and to investigate the electrophysiologic mechanisms of abnormal movements in extrapyramidal disorders. METHODS: 5 Patients with Parkinson's disease and 5 patients with cerebellar disease performed several different stereotyped elbow flexion tasks, and the EMG patterns from biceps and triceps were compared with control group. RESULTS: In patients with Parkinson's disease characterized, EMG pattern during a smooth felxion task was almost always abnormal and was chracterised by alternating activity in biceps and triceps. The EMG patterns during a fast flexion task were also usually abnormal although they were always composed of bursts of EMG activity of normal duration appearing alternately in the agonist and antagonist muscles. So, This study demonstrates that both slow and fast movement are clearly abnormal in these patients with diesase of the basal ganglia. In a task designed to investigate antagonist inhibition before agonist activity, a majority of the patients performed normally. CONCLUSIONS: This study suggest that, contrary to previous claims, slowness of movement is not due either to failure to relax or to rigidity of agtagonist muscles. In patients with cerebellar disease, EMG pattern during a fast flexion task showed prolongation of the initial biceps and/or triceps components, and it is suggested that this abnormality might be an elemental featrure of dysmetria. 3 of 5 patients showed the normal pattern of smooth felxion indicating that, with cerebellar deficits, smooth movements are better preserved than fast movements. The timing of the cessation of triceps activity before the initiation of biceps activity in an alternating movement was abnormal in 4 of 5 patients; this abnormality might be an elemental feature of dysdiadochokinesia.
Basal Ganglia Diseases ; Basal Ganglia* ; Cerebellar Ataxia ; Cerebellar Diseases ; Cerebellum ; Dyskinesias ; Elbow ; Humans ; Muscles ; Parkinson Disease ; Research Personnel

BACKGROUND & PURPOSE: Although several investigators have been studying EMG activities in projected movements, a complete and satisfactory understanding of the EMG patterns is still lacking. This present study is an attempt to define these patterns for certain stereotyped movements in a normal population, and to investigate the electrophysiologic mechanisms of abnormal movements in common extrapyramidal disorders. METHODS: 10 Patients with Parkinson's disease and 10 patients with cerebellar disease were tested with several different tasks, using stereotyped elbow flexions. They include fast active flexion(FAF), slow active flexion(SAF), fast passive flexion(FPF), slow passive flexion(SPF), and Antagonist-inhibition task. The recorded EMG activities from biceps(agonist) and triceps(antagonist) were analysed by being compared with normal patterns of the control group. RESULTS AND CONCLUSIONS: In most patients with Parkinson's disease, EMG patterns during some smooth flexion tasks(active and passive) were abnormal and were characterised by persistent co-contractions both in biceps and triceps. The EMG patterns during a fast flexion task(active and passive) were also abnormal in about half of all patients with Parkinson's disease. This study demonstrates that both slow and fast movements are abnormal in patients with Parkinson's disease, however slow movements are more difficult than fast movements in patients with Parkinson's disease. In a task designed to investigate antagonist inhibition before agonist activities, a majority of the patients with Parkinson's disease showed normal inhibition patterns. This study suggests that, contrary to previous claims, slowness of movement be not due to either failure to relax, or rigidity in antagonist muscles. In patients with cerebellar disease, EMG patterns during a fast flexion task showed prolongation of the initial biceps and/or triceps components, and it is suggested that this abnormality might be an elemental feature of dysmetria. All patients with cerebellar disease.
Basal Ganglia ; Basal Ganglia Diseases ; Cerebellar Ataxia ; Cerebellar Diseases* ; Cerebellum ; Dyskinesias ; Elbow ; Humans ; Muscles ; Parkinson Disease* ; Research Personnel

BACKGROUND: Normal pressure hydrocephalus (NPH) is a poorly understood condition, which typically presents with the triad of gait disturbance, urinary incontinence and cognitive decline. Diagnosis of NPH is often challenging due to its varied presentation and overlap with other neurodegenerative diseases including multiple system atrophy (MSA). CASE REPORT: A 68-year-old male developed rapidly progressive gait difficulty, urinary incontinence and memory impairment. Neurologic examination showed parkinsonism affecting the right side and impaired postural reflexes. Brain MRI showed enlargement of the ventricles and narrowing of the high convexity cerebrospinal fluid (CSF) spaces with relative dilated Sylvian fissure, the supporting features of NPH. 18F-fluorinated-N-3-fluoropropyl-2-b-carboxymethoxy-3-b-(4-iodophenyl) nortropane (¹⁸F-FP-CIT) PET showed decreased FP-CIT binding in the left posterior putamen and ¹⁸F-fluorodeoxyglucose PET showed decreased metabolism in the left basal ganglia, consistent with findings of MSA. CSF removal was performed and the symptoms were improved. The patient underwent ventriculo-peritoneal shunt and his gait and cognition improved. CONCLUSIONS: NPH is a potentially treatable neurological disorder. Therefore, it is necessary to consider the possibility of accompanying NPH when hydrocephalus is present in other neurodegenerative diseases.
Aged ; Basal Ganglia ; Brain ; Cerebrospinal Fluid ; Cognition ; Diagnosis ; Gait ; Humans ; Hydrocephalus* ; Hydrocephalus, Normal Pressure ; Magnetic Resonance Imaging ; Male ; Memory ; Metabolism ; Multiple System Atrophy* ; Nervous System Diseases ; Neurodegenerative Diseases ; Neurologic Examination ; Parkinsonian Disorders ; Putamen ; Reflex ; Urinary Incontinence ; Ventriculoperitoneal Shunt

OBJECTIVE: To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism. METHODS: The radiologic information systems at an academic center and affiliated veterans' hospital were queried using the keywords ‘hot cross bun,’ ‘pontocerebellar,’ ‘cruciate,’ ‘cruciform,’ ‘MSA,’ ‘multiple system atrophy,’ and ‘multisystem atrophy.’ Scans were reviewed by a neurologist and neuroradiologist to identify the HCBS. Subjects with the HCBS were reviewed by 2 neurologists to identify the most likely etiology of the patient's neurologic symptoms. RESULTS: Eleven cases were identified. Etiologies included MSA (4 probable, 2 possible), hereditary cerebellar ataxia (3/11), probable dementia with Lewy bodies (1/11), and uncertain despite autopsy (1/11). CONCLUSION: MSA was the most common etiology. However, 5 of the 11 patients did not have MSA. The most common alternate etiology was an undefined hereditary cerebellar ataxia (3/11).
Adult ; Autopsy ; Cerebellar Ataxia ; Dementia ; Hexachlorobenzene ; Humans ; Lewy Bodies ; Magnetic Resonance Imaging ; Multiple System Atrophy ; Neurologic Manifestations ; Olivopontocerebellar Atrophies ; Parkinsonian Disorders ; Radiology Information Systems ; Sensitivity and Specificity