| paraneoplastic cerebellar degeneration is a rare complication of cancer and is most frequently associated with lung, ovary, and breast cancers as well as Hodgkins lymphoma. A 74-year-old female with a past history of breast cancer presented with vomiting, ataxia, slurred speech, and dizziness. Her serum chemistry, thyroid and liver function tests, acetylcholine antibodies, serum cortisol, CT, and MRI imaging were all normal. serum testing for anti-YO antibodies was positive. Further evaluation including CT of the abdomen and pelvis revealed endometrial thickening. Subsequently, an endometrial biopsy showed a poorly differentiated serous adenocarcinoma. Surgical staging was consistent with a stage IIIc serous adenocarcinoma of the uterus. The risk factors, symptoms, signs, differential diagnosis, and clinical and antibody associations of the paraneoplastic cerebellar degeneration syndrome are reviewed. In addition, an efficient approach to the diagnostic evaluation of such patients is proposed. ( info) |
2/219. Branched-chain amino acid therapy for spinocerebellar degeneration: a pilot clinical crossover trial. OBJECT: The potential effects of branched-chain amino acids (BCAAs) on spinocerebellar degeneration (SCD) were explored in eleven patients. methods: The patients received 200 ml of BCAA-rich solution, 2 mg of thyrotropin-releasing hormone (TRH; protirelin), or a placebo daily for 7 days each in a random order. An SCD score was used to quantify the severity of symptoms. patients: Eleven patients with SCD (7 male, 4 female; mean age 60 /-11; mean disease duration 5.5 years) participated in this study. RESULTS: The mean SCD score of the eleven patients improved significantly by the BCAA treatment compared with the baseline. The conditions of five of the eleven patients (45%) were clearly improved by the BCAA treatment. All of the responders manifested predominantly cerebellar symptoms, but no prominent parkinsonian symptoms. Two patients with marked rigidity and akinesia did not respond to the treatment. CONCLUSION: We concluded that BCAAs do have a beneficial effect on functional improvement in patients with SCD, and that further large scale studies are needed. ( info) |
3/219. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). The effect of CAT trinucleotide interruptions in the CAG trinucleotide repeats of the SCA1 gene on the age at onset of spinocerebellar ataxia type 1 (SCA1) was investigated. The number of CAG repeats in SCA1 was determined by polymerase chain reaction (PCR) analysis, and the presence of CAT interruptions was assessed on the basis of the sensitivity of the PCR products to the restriction endonuclease SfaNI, which recognises CAT trinucleotides. Only one in 17 expanded SCA1 alleles from 17 SCA1 patients was interrupted by CAT. The SfaNI sensitive SCA1 allele from this single patient contained 58 CAG repeats, which would predict an age at onset of SCA1 of 22.0 years, in contrast to the actual 50 years. In addition, the brain stem atrophy of this patient was mild compared with that of a patient with 52 uninterrupted CAG repeats. A sequence analysis showed that the repeat portion of the patient contained (CAG)45CATCAG CAT(CAG)10. From these results, we suggest that the age at onset of SCA1 is not determined by the total number of CAG repeats (58) but by the number of uninterrupted CAG repeats. ( info) |
4/219. An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia. We herein report the findings of an autopsy case of spinocerebellar ataxia type 6 (SCA6) which revealed a mild CAG-repeat expansion in the alpha1A voltage-dependent calcium channel (CACNL1A4) gene on chromosome 19p13. A 39-year-old man who showed slowly progressive mental disorders and gait ataxia was clinically diagnosed to have cortical cerebellar atrophy (CCA) and schizophrenia. None of his relatives revealed any symptoms such as spinocerebellar disease, however, his younger brother had shown some mental disorders. The patient eventually died at 52 years of age, and an autopsy was thus performed. The main histopathological findings included a severe neuronal cell loss of purkinje cells and inferior olivary nuclei. The number of purkinje cells in our case had decreased severely in comparison to that in either OPCA or age-matched control cases, and the purkinje cells in the cerebellar hemisphere were more affected than those in the cerebellar vermis. The neurons of the dentate nucleus and pontine nuclei were well-preserved, and no pathological changes were seen in cerebral cortices or basal ganglia. The clinicopathological findings were similar to those of late cortical cerebellar atrophy (LCCA), Holmes' cortical cerebellar atrophy (Holmes type) or SCA6 cases reported previously. Using genomic dna extracted from archival paraffin-embedded sections in the frontal lobe, cerebral basal ganglia and cerebellum, the identical mild CAG-repeat expansions in the CACNL1A4/SCA6 gene were revealed in all samples examined. These findings suggest that in cases with LCCA or Holmes type atrophy, we should thus examine the CAG-repeat expansions in the SCA6 gene, and the genomic dna extracted from paraffin-embedded sections was thus found to be useful in diagnosing SCA6 retrospectively. ( info) |
5/219. A case of spinocerebellar ataxia type 6 mimicking olivopontocerebellar atrophy. Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant, slowly progressive cerebellar ataxia without multisystem involvement. We report a 57-year-old woman with genetically confirmed SCA6 who showed clinical features of olivopontocerebellar atrophy. Conventional T2-weighted and FLAIR MRI demonstrated high signal in the middle cerebellar peduncles, in addition to mild atrophy of the pons and cerebellum. ( info) |
6/219. X-linked adrenoleukodystrophy: spinocerebellar variant. The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebellar degeneration. There are very few reported cases of selective predominant white matter disease of the cerebellum in these patients. We report a patient with a rare variant of adult onset ALD who was previously diagnosed as spinocerebellar ataxia. He was a 24-year-old male who had delayed developmental milestones, developed signs of spinocerebellar degeneration (SCD) after 10 years of Addison's disease. Serial magnetic resonance imaging (MRI), revealed cerebellar and pontine white matter disease but sparing the cerebral cortex and supratentorial white matter. His diagnosis of X-ALD was subsequently confirmed by the elevated serum very long chain fatty acids. This patient illustrates the unusual clinical presentation and imaging features of X-ALD and the importance of considering X-ALD in the clinical context of spinocerebellar degeneration. Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation. ( info) |
| We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjogren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin e deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjogren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E. ( info) |
8/219. Double simultaneous cysts of the mediastinum. We describe a rare case of double mediastinal tumors in a 60-year-old male with spinocerebellar degeneration. magnetic resonance imaging (MRI) accidentally revealed double cystic tumors in the anterior and posterior mediastinum. Surgical management by video-assisted thoracic surgery (VATS) was successfully performed. The histological diagnoses were confirmed as a thymic cyst in the anterior and a thoracic duct cyst in the posterior mediastinum, respectively. ( info) |
9/219. Spinocerebellar syndrome in patients infected with human T-lymphotropic virus types I and II (HTLV-I/HTLV-II): report of 3 cases from panama. Cerebellar symptoms at onset are unusual in HTLV-I/II-associated tropical spastic paraparesis (TSP). A prospective study of neurological disorders in panama (1985-1990) revealed 13 patients with TSP and 3 with HTLV-I/II-associated spinocerebellar syndrome (HSCS) presenting at onset loss of balance, wide-based stance and gait, truncal instability, and mild leg ataxia (vermian cerebellar syndrome), with absent upper limb dysmetria but with postural tremor, downbeat nystagmus, and dysarthria. In 4-5 years, spinal cord manifestations of TSP developed, including spastic paraparesis, pyramidal signs, bladder and sphincter disturbances. Two patients were infected with HTLV-I and another one, a Guaymi Amerindian woman, with HTLV-II. magnetic resonance imaging (MRI) demonstrated cerebellar atrophy involving predominantly the superior vermis. Mild axonal peripheral neuropathy in the lower limbs, dorsal column involvement and inflammatory myopathy were found by neurophysiology studies. There are 14 similar cases reported in japan and canada, but to our knowledge these are the first documented cases of HSCS in the tropics. A cerebellar syndrome constitutes another form of presentation of HTLV-I/II infection of the nervous system. ( info) |
10/219. epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms. The epilepsies have been regarded as clinically distinct from the paroxysmal movement disorders. Recently, a variety of ion channel defects have been identified as the biological basis of certain familial epilepsies and paroxysmal movement disorders. We studied two families with the co-occurrence of epilepsy, movement disorders and migraine. Information was obtained on 147 individuals in the two families. In family WF, there was a co-occurrence of epilepsy (benign infantile convulsions, idiopathic generalized epilepsy), episodic ataxia (with cerebellar atrophy and without myokymia) and common migraine. In family CL, epilepsy (febrile seizures, febrile seizures plus), kinesigenic paroxysmal dyskinesia and migraine (including hemiplegic migraine) were observed in various combinations over 3 generations. The observations in these two families, together with review of the literature, suggest that the co-occurrence of epilepsy (particularly benign infantile convulsions), paroxysmal movement disorders and migraine is not due to chance. Thus, these distinct clinical phenomena could have a shared biological basis and ion channel defects are an attractive possibility. ( info) |