Spinocerebellar Ataxia Type 6 in Two Korean Families

BACKGROUND: Spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degeneration and caused by the expansion of the polymorphic CAG repeat in the human alpha 1A voltage-dependent calcium channel subunit gene. In this study, we report the clinical and molecular genetic characteristics of SCA6 in 2 Korean families. We further describe that SCA6 and Episodic ataxia type 2 are simultaneously developed in same family showing no intergenerational changes of CAG repeat numbers. METHODS: Seventeen members of one family and nine of the other received detailed neurological examination and history taking at least one occasion. After the screening test, molecular diagnostic test by using Zhuchenko's method were performed in 13 patients in one family and 3 in the other, respectively. RESULTS: Normal range of CAG repeat in 92 normal individuals was 8 to 17. In this study, the numbers of CAG repeat in one family was 26 and in another was 23. There were no intergenerational differences in the numbers of CAG repeat. Despite the same number of CAG repeat, the clinical anticipation were found. Only one showed episodic ataxia clinically. CONCLUSIONS: Comparing with other types of SCA, the SCA6 had several remarkable characteristics: 1) very small CAG expansions (21-27 repeats) lead to clinical symptoms and the repeat numbers are relatively stable, 2) clinical anticipation is observed despite the relatively stable repeat on intergenerational transmission. The finidngs that an EA2 and a SCA6 exist in a same family may be suggest that two disease are the same disorder with a high phenotypic variablity.

A Case of Methanol Intoxication with Multifocal Enhancing Lesions in Brain Magnetic Resonance Imaging

In accidental or suicidal methanol ingestion, bilateral necrosis of the putamen and hemispheric white matter lesions are the most common findings on CT and MRI. There are a few reports that have demonstrated abnormal CT findings in methanol intoxication, however, to our knowledge, contrast enhancement of these lesions have not been reported in Korea. We report the case of a 36-year-old male who had a brain MRI performed 3 weeks after accidental methanol intoxication. T2 weighted MRI showed bilateral symmetrical high signal lesions in the frontal lobe and basal ganglia with hemorrhaegic necrosis. A postcontrast MRI demonstrated multifocal enhancing lesions in both frontal lobes, right temporal lobe, both basal ganglias and both cerebellar hemispheres. We suggest that the characteristic brain MRI finding and careful history taking are helpful in diagnosis of methanol intoxication.

A case of chondrosarcoma presenting as Garcin syndorme

Garcin's syndrome is defined as showing total unilateral cranial nerve palsies (at least more than 7 ipsilateral cranial nerve palsies), without either sensory or motor long tract disturbance, and without intracranial hypertension. The present report describes an 8-year-old child who had swelling on the right postauricular area and ptosis on the same side which developed before 2 months ago. Neurologic examination disclosed complete unilateral cranial nerve palsies on the right side. Brain MRI revealed a bulky hypervascular well-enhancing solid tumor, involving the right temporal bone, middle cranial fossa, cerebellopontine angle, infratemporal and pterygopalatine fossae, and parapharyngeal space. A biopsy was performed, and its finding showed a chondrosarcoma.

Evaluation of Initiation Time in Parkinson's Disease: Cybex Isokinetic test

To quantitively evaluate the initiation failure in Parkinson's disease (PD), we studied the initiation time by using the Cybex isokinetic test machine. Eighteen patients with idiopathic PD and age-matched normal controls were selected, and the initiation time during the extension and flexion of elbow and knee joints were measured in each group. Compared to the normal subjects and the patients with PD, the patients revealed prolongation of initiation time. So, it is suggested that the quantitive measurement of initiation time by Cybex isokinetic test could be a useful clinical tool in evaluating the symptoms of initiation failure of PD.

A Case of Periodic Paralysis Due to Aldosterone Producing Adrenal Cortical Adenoma

A 32 year-old-man was admitted because of paraparesis. Hypertension and hypokalemia was noted with increased aldosterone level in his serum. Computerized tomography of abdomen showed well-defined an ovoid mass of low density in the right adrenal gland. Right adrenalectomy was done and pathologic findings showed a golden yellow color adenoma with large clear cells. Postoperatively there was reversal of hypertension and hypokalemia. We present a case of periodic paralysis due to aldosterone producing adrenal cortical adenoma with brief review of literature.

The Effect of Whole Body Irradiation for the Treatment of Myasthenia Gravis

This study is designed to evaluate the effect of low-dose whole body irradiation (WBI) for treatment of myasthenia gravis(MG) and changes of immunological parameters. According to MG protocol of low dose WBI, eleven patients were selected and followed up for at least one year. Clinical status and immunological parameters were assessed at the time of pretreatment (baseline) and 1, 2, 3, 6, 12 months after initial dose irradiation. The improvement began five weeks after WBI and lasted for 12-month follow-up in 7 patients (good responders) Clinical improvement and immunological changes were more pronounced in good responders. So, it is suggested that low dose WBI may have the role in the treatment of the MG as an another therapeutic modality.