Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous studies investigated the use of acoustic perturbation measures as a screening tool for neuropathologies with conflicting results. In the present study, five parameters of phonatory function (jitter, shimmer, signal-to-noise ratio, fundamental frequency, and standard deviation of fundamental frequency) were obtained from samples of sustained phonation in three neuropathological groups (Parkinson, Huntington, cerebellar ataxia) and a normal control group to assess the use of acoustic measures in differential diagnosis. In addition, perceptual judgements of the severity of dysphonia for each patient were obtained. The results indicated that perturbation measures of the neuropathological groups showed a higher degree of variability compared to normals. From the five parameters studied, only the standard deviation of fundamental frequency differentiated among neuropathological subgroups. The acoustic parameters studied did not clearly reflect the perceived dysphonia for all subgroups.
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PMID:Phonatory function of neurologically impaired patients. 183 48

The patient, a 78-year-old female with history of headache and progressive gait disturbance for almost one year, was admitted to our department because of dysphagia and dysphonia since three months before. Neurological examination revealed nystagmus, cerebellar ataxia, deafness, and vesical incontinence. No cerebral injuries were detected by computed tomography (CT) scan, although Paget's. Disease of Bone (PDB) was suggested, confirmed by biochemical and scintigraphic studies. The plain skull X-ray showed platybasia. As all the disarrangements were not explained by PDB complications alone, nuclear magnetic resonance imaging (MRI) was performed which demonstrated an Arnold-Chiari malformation (ACM) type I, with mild tonsillar herniation and anterior compression of the brainstem due to basilar impression, without syringomyelia. The association of PDB and ACM is a peculiarity seldom reported. The surgical approach was rejected, but the severity of symptoms and osteitis deformans biochemical activity needed a treatment; it was orientated to modify bone turnover using etidronate, a bisphosphonate, which induced clinical improvement and a decrease in serum alkaline phosphatase as well as in other bone resorption markers, without side effects. The good status and biochemical remission have been maintained a year later.
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PMID:[Paget's disease of bone and basilar impression associated with an Arnold-Chiari type-1 malformation]. 942 43

Two brothers presented with late-onset cerebellar ataxia and severe dysphonia. Brain MRI showed vermian and hemispheric cerebellar atrophy. Laringofiberscopy revealed laryngeal abductor paralysis in both patients. Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible.
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PMID:Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy. 1137 2

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency. AOAD has a different clinical and neuroradiological presentation with respect to early-onset AD, as abnormalities are mainly concentrated in the brainstem-spinal cord junction. We report detailed clinical and genetic data of 11 cases of AOAD, observed over a 4-year period, and a review of the previously reported 25 cases of genetically confirmed AOAD. In our series, onset occurred as late as age 62, and up to 71 in an affected deceased relative. Most cases appeared sporadic, but family history may be misleading. The most frequent symptoms were related to bulbar dysfunction-with dysarthria, dysphagia, dysphonia (seven patients)-, pyramidal involvement (seven patients) and cerebellar ataxia (seven patients). Four patients had palatal myoclonus. Sleep disorders were also observed (four cases). Bulbar symptoms, however, were infrequent at onset and two symptomatic patients had an almost pure pyramidal involvement. Two subjects were asymptomatic. Misdiagnosis at presentation was frequent and MRI was instrumental in suggesting the correct diagnosis by showing, in all cases, mild to severe atrophy of the medulla oblongata extending caudally to the cervical spinal cord. In ten patients, molecular studies revealed six novel missense mutations and three previously reported changes in GFAP. The last typical patient carried no definitely pathogenic mutation, but a missense variant (p.D157N), supposedly a rare polymorphism. Revision of the literature and the present series indicate that the clinical picture is not specific, but AOAD must be considered in patients of any age with lower brainstem signs. When present, palatal myoclonus is strongly suggestive. Pyramidal involvement, cerebellar ataxia and urinary disturbances are common. Less frequent findings include sleep disorders and dysautonomia. Fluctuations may occur. The course is variable, usually slowly progressive and less severe than the AD forms with earlier onset. AOAD is more common than previously thought and might even be the most common form of AD. The diagnosis is strongly suggested by MRI and confirmed by GFAP gene analysis.
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PMID:Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. 1868 70

The reported case is a 61-year-old woman, admitted for gradual onset of gait disturbances and dysphonia. The serum immunological panel revealed anti-Yo autoantibodies, suggestive of a paraneoplastic syndrome (PNS). A PET-CT revealed a suspicious left ovarian mass with retroperitoneal nodal involvement, and the histological assessment of surgical samples confirmed a FIGO IIIC high-grade serous ovarian cancer (HGSOC). Deemed inoperable at first, the patient was treated by carboplatin and paclitaxel chemotherapy, after which she refused surgical debulking. At the end of her systemic treatment, the patient only experienced a transient improvement of the cerebellar ataxia. Despite the suboptimal oncological treatment, the patient still presents stable disease and is free of progression 7 years from her diagnosis. This case study illustrates the favorable effect of PNS occurrence on oncological outcome in a patient with advanced HGSOC. The absence of recurrence despite the presence of residual disease after the systemic treatment is unusual and could be related to the PNS.
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PMID:Paraneoplastic Cerebellar Ataxia Can Affect Prognosis in High-Grade Serous Ovarian Cancer: A Case Report. 3299 64