Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present 3 sporadic cases of a subacute to chronic, progressive motor (i.e. weakness, ataxia, spasticity, dysarthria, and dysphagia) and cognitive disorder in adults of both sexes, without proven immunocompromise or malignancy. Neuroimaging studies revealed tiny calcifications with atrophy of the cerebrum, pons, and midbrain in 1 patient, cerebral atrophy in another, and cerebral atrophy and periventricular white matter hyperintensities in the third. Clinical diagnoses included cortico-pontine-cerebellar degeneration, mixed neurodegenerative disorder, progressive supranuclear palsy, diffuse Lewy body disease, and Lyme disease. One atrophic brain revealed widely disseminated, millimeter-sized gray lesions in cerebral white matter and obscured anatomic markings of the basis pontis. The most conspicuous microscopic feature in all was capillaries with focally piled up endothelial nuclei, some of which appeared to be multinucleated, or enlarged, hyperchromatic crescentic single nuclei. Although seen mostly without associated damage, they were also noted with white matter lesions displaying vacuolation, demyelination, spheroids, necrosis, vascular fibrosis, and mineralization; these were most severe in the basis pontis. Immunostains and probes to herpes simplex virus-I, -II, and -8; adenovirus, cytomegalovirus, varicella-zoster, Epstein-Barr virus, measles, JC virus, and herpes hominis virus-6 were negative. Electron microscopy revealed no virions in endothelial cells with multilobed or multiple nuclei and duplicated basal laminae. However, mycoplasma-like bodies, mostly 400 to 600 nm in size, were found in endothelial cell cytoplasm and capillary lumina. Platelets adhered to affected endothelial cells. Polymerase chain reaction and immunohistochemistry of fixed samples for Mycoplasma fermentans were negative; other species of Mycoplasma remain viable pathogenic candidates.
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PMID:A novel cerebral microangiopathy with endothelial cell atypia and multifocal white matter lesions: a direct mycoplasmal infection? 2300 Dec 18

Multiple system atrophy (MSA) is a neurodegenerative disease presenting with a combination of parkinsonian, cerebellar, and autonomic (including cardiovascular, urinary, and anorectal) dysfunction. It is pathologically defined, but at present lacks a definitive clinical diagnostic test. The majority of patients with probable MSA have an abnormal sphincter EMG. Patients with idiopathic Parkinson's disease do not show marked sphincter EMG abnormalities. Therefore, these abnormalities can be used to distinguish MSA from idiopathic Parkinson's disease in the first 5 years after disease onset. In contrast, similar sphincter EMG abnormalities are found in some, though not many, patients with dementia with Lewy bodies, pure autonomic failure, progressive supranuclear palsy, and spinocerebellar ataxia type 3. Thus, the limitations of the sphincter EMG test should also be kept in mind. Sphincter EMG and relevant sacral autonomic tests are diagnostic tools for autonomic disorders, reflecting the common and significant involvement of the sacral cord in MSA.
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PMID:Sphincter EMG as a diagnostic tool in autonomic disorders. 1878 Jan 43

In neurodegenerative diseases, cerebrospinal fluid analysis (CSF) is predominantly performed to exclude inflammatory diseases and to perform a risk assessment in dementive disorders by measurement of tau proteins and amyloid beta peptides. However, large scale data on basic findings of CSF routine parameters are generally lacking. The objective of the study was to define a normal reference spectrum of routine CSF parameters in neurodegenerative diseases. Routine CSF parameters (white cell count, lactate and albumin concentrations, CSF/serum quotients of albumin (Q (alb)), IgG, IgA, IgM, and oligoclonal IgG bands (OCB)) were retrospectively analyzed in an academic research setting. A total of 765 patients (Alzheimer's disease (AD), Parkinson's disease (PD), Parkinson's disease dementia (PDD), vascular dementia (VD), frontotemporal lobar degeneration (FTLD), progressive supranuclear palsy (PSP), multisystem atrophy (MSA), motor neuron diseases (MND), spinocerebellar ataxia (SCA), Huntington's disease (HD)) and non-demented control groups including a group of patients with muscular disorders (MD). The main outcome measures included statistical analyses of routine CSF parameters. Mildly elevated Q (alb) were found in a small percentage of nearly all subgroups and in a higher proportion of patients with PSP, MSA, VD, PDD, and MND. With the exception of 1 MND patient, no intrathecal Ig synthesis was observed. Isolated OCBs in CSF were sometimes found in patients with neurodegenerative diseases without elevated cell counts; lactate levels were always normal. A slightly elevated Q (alb) was observed in a subgroup of patients with neurodegenerative diseases and does not exclude the diagnosis. Extensive elevation of routine parameters is not characteristic and should encourage a re-evaluation of the clinical diagnosis.
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PMID:Summary of cerebrospinal fluid routine parameters in neurodegenerative diseases. 2118 8

This content focuses on some of the less common causes of dizziness in the adult. The diseases have been divided into the 2 broad categories of those causing chronic symptoms and those causing episodic symptoms. Presented here are the unusual causes of chronic disequilibrium in the adult, including bilateral vestibular loss, progressive supranuclear palsy, spinocerebellar ataxias, and mal de debarquement. Also discussed are the unusual causes of episodic disequilibrium in the adult, including psychogenic disequilibrium, vestibular paroxysmia, episodic ataxia, vestibular seizures, and cervicogenic vertigo.
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PMID:Infrequent causes of disequilibrium in the adult. 2147 14

A Japanese female patient presented with dysarthria and gait disturbance with ataxia at the age of 63. She was initially diagnosed with spinocerebellar degeneration because a head CT showed atrophy of the cerebellum and brainstem, and dilatation of the fourth ventricle. Symptoms including abnormal behavior, dementia, vertical gaze palsy, dysphagia, retrocollis, axial rigidity, grasp reflex and positive Babinski's sign were gradually observed. Tegmental atrophy of the brainstem and dilatation of the third ventricle were apparent on images. The diagnosis was modified to progressive supranuclear palsy (PSP), 6 years after the onset of symptoms. Gastrostomy and tracheotomy were performed 7 and 8 years after onset, respectively, and the patient died one year later. At autopsy the brain weighed 1,030g and showed atrophy of the frontal lobe and cerebellum. The brainstem was also atrophic, particularly in the tegmentum and pontine base. Neurofibrillary tangles, mainly globose-type, were widespread in the subcortical structure, particularly in the globus pallidus, subthalamic nucleus, nucleus of the oculomotor nerve, substantia nigra, locus ceruleus, pontine nucleus, and the inferior olivary nucleus. Numerous glial fibrillary tangles and argyrophilic threads were also observed particularly in the frontal lobe, basal ganglia, brainstem and cerebellar white matter. The cerebellar dentate nucleus showed neuron loss with grumose degeneration and the Purkinje neuron layer showed neuron loss and Bergmann's gliosis with torpedoes. Tau positive inclusions in the Purkinje neurons, Bergmann glias and dentate nucleus neurons were observed. Pathological findings were consistent with the diagnosis of PSP but the olivopontocerebellar involvement and the quantity of Gallyas-positive/tau-positive structures were generally more severe than in typical PSP cases. According to these clinicopathologic findings and a review of the literature, we speculate on the existence of a PSP subtype with severe olivopontocerebellar involvement that tends to be clinically misdiagnosed as spinocerebellar degeneration.
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PMID:[An autopsied case of progressive supranuclear palsy, initially diagnosed as spinocerebellar degeneration with severe olivopontocerebellar involvement]. 2201 67

Magnetic resonance imaging (MRI and single-photon emission computed tomography (SPECT) have a considerable role in the diagnosis of the single patient with movement disorders. Conventional MRI demonstrates symptomatic causes of parkinsonism but does not show any specific finding in Parkinson's disease (PD). However, SPECT using tracers of the dopamine transporter (DAT) demonstrates an asymmetric decrease of the uptake in the putamen and caudate from the earliest clinical stages. In other degenerative forms of parkinsonism, including progressive supranuclear palsy (PSP), multisystem atrophy (MSA), and corticobasal degeneration (CBD), MRI reveals characteristic patterns of regional atrophy combined with signal changes or microstructural changes in the basal ganglia, pons, middle and superior cerebellar peduncles, and cerebral subcortical white matter. SPECT demonstrates a decreased uptake of tracers of the dopamine D2 receptors in the striata of patients with PSP and MSA, which is not observed in early PD. MRI also significantly contributes to the diagnosis of some inherited hyperkinetic conditions including neurodegeneration with brain iron accumulation and fragile-X tremor/ataxia syndrome by revealing characteristic symmetric signal changes in the basal ganglia and middle cerebellar peduncles, respectively. A combination of the clinical features with MRI and SPECT is recommended for optimization of the diagnostic algorithm in movement disorders.
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PMID:Movement disorders: role of imaging in diagnosis. 2227 Dec 73

Genetic mutations as a cause of prion diseases are rare. We describe a large family with multiple affected members with the codon E200K prion mutation. To improve understanding of the genotype-phenotype correlations of prion gene mutations, clinical, genetic and neuropathological data were obtained from family members over 15 years. Six patients with the codon E200K mutation and 2 patients without the codon 200 mutation from this family were followed. The 6 patients with the codon 200 mutation had a mean age onset of 58.83 years (SD 7.2; lower 95 % CI 51.0; upper 95 % CI 66.4). The most common symptoms at onset were memory loss, walking difficulties and hallucinations. The most frequent neurological phenomena were a rapidly progressive dementia, eye movement abnormalities and ataxia. The mean duration of onset of symptoms to death was 3.9 months (SD 1.1; lower 95 % CI 2.8; upper 95 % CI 5.1). Two male patients developed neurodegenerative disorders unrelated to the prion codon 200 mutation: progressive supranuclear palsy and olivopontocerebellar degeneration. Their mean survival was 96 months (SD 33.9; p < 0.0001). Individuals from families with the prion codon 200 mutation may have a rapidly progressive dementia. Members of families with inherited prion mutations may be at risk of other neurodegenerative disorders unrelated to the prion mutation.
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PMID:Codon 200 mutation of the prion gene: genotype-phenotype correlations. 2258 55

The objective of this study was to determine the prevalence of blepharospasm (BSP), with and without apraxia of eyelid opening (AEO), in patients with parkinsonism, cervical dystonia (CD), and essential tremor (ET). BSP, with or without AEO, is associated with parkinsonism. There have been several reports of BSP in other dystonic conditions, but few looked at the incidence of BSP in ET patients. This study included 659 patients of which 357 had parkinsonism (276 idiopathic Parkinson's disease (IPD) and 81 atypical parkinsonism (57 progressive supranuclear palsy; 11 multiple system atrophy 13 corticobasal degeneration)), 274 had ET, 22 had CD, and 6 had spinocerebellar ataxia. Our results indicate that BSP (with or without AEO) was more prevalent in atypical parkinsonism (6 out of 81, 7.41%) than IPD (9 out of 276, 3.26%). The study also followed 10 (of the 28) patients with BSP to screen for the development of other movement disorders - of these, 2 developed Parkinson's disease. We conclude then that BSP is common in parkinsonism and that BSP is more prevalent in atypical parkinsonism. We also conclude that BSP is not a common feature in ET patients (0 out of 274 patients reported BSP symptoms).
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PMID:Prevalence of blepharospasm and apraxia of eyelid opening in patients with parkinsonism, cervical dystonia and essential tremor. 2307 68

The classical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) is rapid progressive dementia often associated with myoclonus and ataxia followed by death in less than a year from diagnosis. The few patients in the literature who presented with parkinsonism and who were suspected to have progressive supranuclear palsy (PSP) all ran a malignant course and most of them died within 3 years of diagnosis. We screened the Queen Square Brain Bank database and, among 213 patients with a clinical diagnosis of PSP, we found ten patients with 3 years or less disease duration, including one patient with CJD pathology. We report this patient and review other similar cases from the literature. Ten additional cases with similar presentation were identified in the literature. The mean disease duration was 24.2 months. The classical clinical, radiological and laboratory findings for sCJD were absent in the majority of these cases. Clinical presentation of these patients consists of: early falls, prominent dementia, early vertical supranuclear gaze palsy and symmetric akinetic syndrome. In the patients who were subtyped at post-mortem, all four represented the MM2 subtype of sCJD. A rapidly progressive course of PSP with early falls, cognitive impairments and vertical supranuclear gaze palsy should raise suspicion of underlying sCJD pathology regardless of absence of supportive findings on ancillary tests. This case and the literature support the notion that biochemical properties of the prion protein can influence the clinical presentation of sCJD.
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PMID:MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy. 2318 Jan 83

A Japanese male patient presented with gait disturbance at the age of 69 years. His principal symptom was cerebellar ataxia for several years. He was initially diagnosed as having olivopontocerebellar atrophy because dysarthria and ataxia gradually developed, and head CT scan showed apparent atrophy of the cerebellum and brainstem and dilatation of the fourth ventricle. Later, he showed vertical gaze palsy, dysphagia, retrocollis, parkinsonism, axial dominant rigidity and grasp reflex, and therefore, the diagnosis was modified to progressive supranuclear palsy (PSP). Progressive atrophy of the frontotemporal lobe, cerebellum and brainstem, and dilatation of the lateral, third and fourth ventricles were evident on MRI. Gastrostomy and tracheotomy were performed 9 and 10 years after onset, respectively, and the patient died after 11 years disease duration. At autopsy the brain weighed 1000 g and showed atrophy of the frontotemporal lobe, cerebellum and brainstem. Neurofibrillary tangles, mainly globose-type revealed by Gallyas-Braak silver staining, were extensively observed in the cerebral cortex and subcortical grey matter. Numerous glial fibrillary tangles, including tuft-shaped astrocytes and coiled bodies, and extensive argyrophilic threads were also recognized, particularly in the frontal lobe, basal ganglia, cerebellar white matter, brainstem and spinal cord. The Purkinje cell layer showed severe neuron loss with Bergmann's gliosis, and the dentate nucleus showed severe neuron loss with grumose degeneration. Tau-positive/Gallyas-positive inclusions in the Purkinje cells and the glial cells of the Purkinje cell layer were observed. Pathological findings of the present patient were consistent with the diagnosis of PSP, but the olivopontocerebellar involvement, particularly in the cerebellum, was generally more severe, and the quantity of tau-positive/Gallyas-positive structures were more abundant than in typical PSP cases. The existence of a distinct, rare PSP subtype with severe olivopontocerebellar involvement, "PSP-C", which tends to be clinically misdiagnosed as spinocerebellar degeneration in the early disease stage, is noteworthy. The present case corresponded to this rare subtype of PSP.
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PMID:An autopsied case of progressive supranuclear palsy presenting with cerebellar ataxia and severe cerebellar involvement. 2332 Jul 89


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