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)

A 41-year-old man was doing well until July 1989, when he noted numbness over soles, followed 4 months later by difficulty in walking. These symptoms were progressively getting worse, and he was admitted to our department on June 12, 1990. General physical examination was unremarkable. Neurologically cranial nerves were intact except old right, traumatic strabismus. Muscle tone and deep tendon reflexes were normal throughout, but bilateral Babinski and Chaddock reflexes were present. Mild weakness of lower extremities were found on muscle testing (4/5). In sensory system, superficial sensory disturbance below T10 was seen, and markedly diminished vibration and position senses of lower extremities were noted. Cerebellar test was intact, although unsteadiness was found on heel-shin test. Romberg sign was definitely positive. His gait was wide-based and ataxic. Laboratory data showed no abnormalities in CBC, chemistry, urinalysis, serological tests and endocrinological examinations. Spinal MRI (Siemens 1.5 Tesla) showed abnormal deposition of epidural fatty tissues compressing spinal cord with flattening of cord from T4 to T8. Spinal ataxia as compressive myelopathy due to epidural lipomatosis was considered and he underwent laminectomy from T4 to T8 with improvement in walking. Epidural lipomatosis is an unusual cause of spinal cord compression, presenting compressive myelopathy, radiculopathy, cauda equina syndrome, intermittent claudication, or back pain. Most of cases were associated with long-term administration of adrenocortical steroid hormone, or underlying diseases, except only 3 cases including ours. This is the first case of spinal epidural lipomatosis presenting progressive gait disturbance due to spinal ataxia.
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PMID:[A case of epidural lipomatosis presenting spinal ataxia]. 206 Feb 46

A Phase II study of combined modality therapy of leptomeningeal metastases (LM) in melanoma was carried out. Central nervous system (CNS) metastases occur commonly in patients with clinically advanced melanoma. 16 patients (median age 47; range 32-62 years) with LM due to metastatic melanoma were treated. Neurologic presentation included: headache (9 patients); cranial neuropathies (6); cauda equina syndrome (4); gait ataxia (3); hemiparesis (2); radiculopathy (2); myelopathy (1); and seizure (1). All patients underwent CNS staging followed by radiotherapy (14 patients) and intraventricular chemotherapy (methotrexate 16 patients; ara-C 13 patients; thio-TEPA 7 patients). CNS imaging demonstrated: interrupted CSF flow (9 patients); parenchymal brain metastases (7); spinal cord subarachnoid nodules (5); hydrocephalus (3); and epidural spinal cord compression (2). CSF cytologic responses were seen in 4 patients to first-, 6 to second-, and 3 to third-line chemotherapy. Treatment-related toxicity included 13 patients with meningitis (12 chemical; 1 bacterial) and 12 patients (18 episodes) with myelosupression (4 episodes secondary to intraventricular chemotherapy). Median survival was 4 months (range: 2-8). Twelve patients (75%) died of progressive LM or combined LM and systemic disease progression. LM in patients with metastatic melanoma may be palliated with combined modality therapy, however, median survival is quite short suggesting a re-evaluation of such an approach in similarly affected patients.
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PMID:Leptomeningeal metastases due to melanoma. 2154 42

A prospective study of combined modality therapy of non-AIDS related lymphomatous meningitis was carried out. Lymphomatous meningitis is diagnosed increasingly as anti-lymphoma therapies become more effective and result in prolonged patient survival. Twenty-two patients (range 38-69 years; median 60) with lymphomatous meningitis due to metastatic non-AIDS related non-Hodgkins lymphoma were treated. Neurologic presentation included: headache (n=13); cranial neuropathies (n=9); ataxia (n=5); cauda equina syndrome (n=3); myelopathy (n=1); and meningismus (n=1). All patients underwent radiographic evaluation of the extent of central nervous system disease (CNS) followed by radiotherapy (n=8) and sequential intraventricular chemotherapy (methotrexate in 22 patients; cytarabine in 12; thio-TEPA in 5). CNS imaging demonstrated: interrupted CSF now (n=8); intra-cranial subarachnoid nodules (n=2); hydrocephalus (n=2); spinal subarachnoid nodules (2); nerve root enhancement (n=2); and epidural spinal cord compression (n=1). Cytologic responses were seen in 16 patients (73%) to first-, 7 (58%) to second- and 2 (40%) to third-line chemotherapy. Treatment-related toxicity included 14 patients (64%) with aseptic meningitis and 12 patients (55%) with thrombocytopenia or neutropenia (all unrelated to intraventricular chemotherapy). Median survival was 10 months (range: 3-24 months). Fourteen patients (64%) died of their systemic disease, 3 patients (14%) died of progressive lymphomatous meningitis, 4 patients (19%) died of progressive combined systemic disease in lymphomatous meningitis and 1 patient (5%) is disease-free. Fourteen patients (64%) received concurrent systemic chemotherapy and no differences were seen in outcome within this group of patients including 6 patients treated with dose intensive chemotherapy and autologous bone marrow transplantation. Lymphomatous meningitis in patients with non-AIDS related non-Hodgkin's lymphoma may be palliated with combined modality therapy, however, despite the application of standard or dose intensive systemic chemotherapy, therapy remains non-curative.
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PMID:Lymphomatous meningitis in immunocompetent patients. 2159 Feb 44

Cauda equina syndrome (CES) in children is very rare and can permanently disable. A remitted intracranial germinoma depositing on the spinal cord, leading to CES, has never been reported. We discuss the case of a 10-year-old girl who presented with sudden ataxia, low back pain, sensory deficits of the left lower extremity, and difficulty urinating and defecating 7 months after totally remitted intracranial germinoma postintracranial surgery and cranial irradiation. Magnetic resonance imaging (MRI) of the brain and spine showed multiple intradural extramedullary homogeneous masses from the cervical to lumbar levels, compressing the conus medullaris and cauda equina. After emergent craniospinal irradiation, the patient's neurologic symptoms dramatically subsided. A remitted intracranial germinoma depositing on her spinal cord could be the cause of CES. Early identification and a proper craniospinal irradiation may halt the progression of symptoms.
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PMID:Effective radiotherapy cured cauda equina syndrome caused by remitted intracranial germinoma depositing. 2308 25

Diagnosis of equine herpesvirus-1 associated myeloencephalopathy (EHM) can be troublesome, but early recognition and knowledge of risk factors are essential for prevention and control. The objectives for this study are to (1) describe EHM in France, (2) improve clinical recognition, (3) identify risk factors. Through epidemiosurveillance of acute neurological cases (all considered to be potentially infectious cases) in France (2008-2011), 26 EHM cases were identified and 29 EHM negative control cases. EHM cases were described and compared to controls with univariate, multivariate and classification and regression tree analysis. EHM cases had a 46% fatality rate and were frequently isolated cases. Most showed ataxia, paresis and a cauda equina syndrome, yet presence of other neurological signs was variable. Statistical analysis identified the following variables to be significantly associated to EHM compared to controls: introduction of a new horse to the herd, cauda equina syndrome, larger herd size, saddle horses and month of occurrence. The presence of many isolated cases, and less typical and variable clinical presentations emphasize the difficulty in diagnosing EHM. Nevertheless, history and clinical examination of acute neurological cases can be valuable in recognizing EHM early as well in order to select those cases that need further laboratory testing and infection control measures. Moreover, with a different study format and geographic location, risk factors were found to be similar to previous studies, therefore strengthening their significance to the spread of EHM.
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PMID:A retrospective study on equine herpesvirus type-1 associated myeloencephalopathy in France (2008-2011). 2622 35

Bardet-Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously.
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PMID:Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. 2856 87

The patient is a 42-year-old woman with metastatic primary peritoneal carcinoma and known brain metastases, who subsequently developed cauda equina syndrome after presenting with ataxia, lower extremity weakness, and bowel and bladder incontinence secondary to leptomeningeal metastasis after treatment with neoadjuvant chemotherapy, surgical debulking, and adjuvant chemotherapy. Metastases to the central nervous system (CNS) and leptomeninges are rare events in epithelial ovarian and primary peritoneal carcinomas as these tumours do not have a predilection for the CNS. Cauda equina syndrome is often characterised by gait disturbances, bowel and bladder dysfunction, saddle anaesthesia, and lower extremity muscle weakness. In patients with known metastatic gynaecologic carcinomas presenting with nonspecific neurologic symptoms, cauda equina syndrome should remain high in the differential diagnosis.
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PMID:Cauda equina syndrome secondary to leptomeningeal metastases from recurrent primary peritoneal carcinoma. 2951 55