1/24. 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.- - - - - - - - - - ranking = 1keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
2/24. 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.- - - - - - - - - - ranking = 3.7885024313635E-8keywords = idiopathic (Clic here for more details about this article) |
3/24. Ataxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with autoimmune thyroiditis.Acquired cerebellar ataxia has been described with hypothyroidism, and is typically reversible by thyroid hormone replacement therapy. The cerebellar dysfunction has been attributed to metabolic and physiological effects of the endocrine disorder. In a few patients, however, ataxia has persisted despite thyroid replacement therapy. Other mechanisms may be involved in ataxia associated with thyroid disorders. OBJECTIVE: To document progressive non-familial adult onset cerebellar degeneration (PNACD) occurring in six patients with raised antithyroid antibodies (Hashimoto's/autoimmune thyroiditis), and other autoimmune manifestations, in the absence of hypothyroidism; and to document the independence of the cerebellar disorder from the endocrine dysfunction. methods: A case study of six patients with PNACD reviewing the clinical course and relation to endocrine and autoimmune status. RESULTS: All six patients were euthyroid when they developed their symptoms; had raised antithyroid antibodies consistent with Hashimoto's autoimmune thyroiditis; and had strong personal or family histories of organ specific autoimmune diatheses. Brain MRI disclosed atrophy of the cerebellar vermis in four patients and olivopontocerebellar atrophy in two. Other possible causes of cerebellar degeneration were excluded. De novo treatment (two patients) or continued treatment (three patients) with L-thyroxine did not modify the progression of the ataxia. CONCLUSIONS: Cerebellar degeneration in these patients with raised antithyroid antibodies may be immune mediated. The presence of antithyroid antibodies may signal or cause the autoimmune process producing cerebellar degeneration. "Hashimoto's associated ataxia" seems to represent a recognisable and not uncommon condition; a trial of immunomodulating therapy should be considered in these patients.- - - - - - - - - - ranking = 0.2keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
4/24. Olivopontocerebellar atrophy presenting with stridor.The spectrum of degenerative ataxia includes the symptomatic degenerative ataxias and the primary degenerative ataxias. The later may be sporadic and idiopathic or hereditary, being genetically determined. When an individual ataxic patient presents with an adult-onset degenerative ataxia and has a negative family history, the physician is faced with a diagnosis of pure idiopathic sporadic degenerative ataxia or one of the hereditary ataxias. The clinical spectrum of olivopontocerebellar atrophy (OPCA) usually consists of pancerebellar signs with pyramidal and abnormal eye movements. Although Stridor is more commonly found in multisystem atrophy, it is rarely seen in OPCA. We, here report a case of third decade onset of ataxia presenting with stridor.- - - - - - - - - - ranking = 0.20000007577005keywords = olivopontocerebellar atrophy, olivopontocerebellar, idiopathic (Clic here for more details about this article) |
5/24. Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea.Parenchymatous cerebellar cortical atrophy (CCA) usually presents with a "pure" cerebellar ataxia. We describe a patient with a sporadic, late-onset progressive cerebellar ataxia plus cognitive decline and chorea who had CCA at post mortem. We discuss this unique case in the current context of classification of idiopathic cerebellar ataxia.- - - - - - - - - - ranking = 3.7885024313635E-8keywords = idiopathic (Clic here for more details about this article) |
6/24. Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis.A 35-year-old male with an 11-year history of intestinal pseudo-obstruction associated with an idiopathic inflammatory insult of the myenteric plexus and the presence of circulating anti-Hu antibodies developed a neurological syndrome characterized by bilateral hearing loss, deteriorating balance, an unsteady gait and difficulty in estimating distances. A similar neurological syndrome has previously been described in older patients among the paraneoplasic syndromes associated with small-cell lung carcinoma and the presence of circulating anti-Hu antibodies, but never in the rare cancer-free patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction. The patient underwent a steroid treatment. No further episodes of functional intestinal obstruction were observed and, after an initial improvement, the neurological symptoms stabilized, leaving a permanent reduction in hearing function and an unsteady gait. The case shows that an idiopathic inflammatory insult of the myenteric plexus may precede (and perhaps lead to) central nervous system impairment in patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction.- - - - - - - - - - ranking = 3.0308019450908E-7keywords = idiopathic (Clic here for more details about this article) |
7/24. machado-joseph disease in new england: clinical description and distinction from the olivopontocerebellar atrophies.Experience is described in 25 patients from southern new england with machado-joseph disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.- - - - - - - - - - ranking = 0.24506263923303keywords = olivopontocerebellar (Clic here for more details about this article) |
8/24. Cerebellar degeneration and Meige's syndrome.We have reported a case of Meige's syndrome in a middle-aged man who eventually had a cerebellar degeneration syndrome. The extrapyramidal symptoms preceded cerebellar signs and symptoms by 5 years. Most patients with idiopathic Meige's syndrome show some improvement with high-dose anticholinergic therapy. Our patient's lack of response to such agents and his subsequent cerebellar symptoms are reminiscent of the situation seen with parkinsonian patients who do not respond to medications, indicating a more widespread degenerative disease. The association of extrapyramidal symptoms with some spinocerebellar disorders, and the pathologic changes seen in the one reported autopsy case, should place the group of spinocerebellar disorders high on the differential list.- - - - - - - - - - ranking = 3.7885024313635E-8keywords = idiopathic (Clic here for more details about this article) |
9/24. Olivopontocerebellar atrophy presenting with hemiparkinsonian ocular motor signs.A patient with olivopontocerebellar atrophy presented with an asymmetric parkinsonian syndrome consisting of right limb rigidity, bradykinesia, masked facies, and a hypophonic, monotonous voice. Right limb clumsiness suggested corticospinal tract involvement. gait was slightly wide based, but no other cerebellar or brainstem signs were present. eye movements were characteristic of parkinsonism with low-gain pursuit and hypometric rightward saccades. Saccadic velocity and the vestibular ocular reflex were within normal limits. There was no pathologic nystagmus or saccadic dysmetria. magnetic resonance imaging showed cerebellar and lower brainstem atrophy virtually diagnostic of olivopontocerebellar atrophy. Olivopontocerebellar atrophy may present uncommonly with asymmetric parkinsonian features, including parkinsonian eye movement abnormalities.- - - - - - - - - - ranking = 0.4keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
10/24. Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA SMA).We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by magnetic resonance imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.- - - - - - - - - - ranking = 1keywords = olivopontocerebellar atrophy, olivopontocerebellar (Clic here for more details about this article) |
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