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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the case of an AIDS patient with rare neurologic manifestations: primary vasculitis of the central nervous system and VIII cranial nerve dysfunction. The authors make a review on the subject, and call special attention for the differential diagnosis. In fact, the patient, a 36 year old woman, with promiscuous life, presented with dizziness, gait ataxia, nausea, headache and hypoacusia. Seven days after the admission, she noted blurred vision in both eyes and soon she became blind. The physical examination showed bilateral optic neuritis and vestibulocochlear dysfunction, stiff neck and fever. No abnormalities were detected on CT scan. CSF showed 40 mononuclear cells/mm3, 79 mg/dl of proteins and normal glucose content. Microbiological research was negative. Serum anti-HIV test was positive. The hypothesis of primary CNS vasculitis was made, and pulse methylprednisolone therapy was introduced with good recovery of neurological syndrome except for persistent amaurosis.
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PMID:[Isolated vasculitis of the central nervous system and involvement of the 8th cranial nerve: rare manifestations of acquired immunodeficiency syndrome]. 130 67

The distribution of axonal spheroids was examined in the central nervous system of gracile axonal dystrophy (GAD) mutant mice. Only few spheroids are observed in the gracile nucleus of the medulla in normal mice throughout the period examined, while they are first noted in GAD mice as early as 40 days after birth. The incidence of spheroids shifts from the gracile nucleus to the gracile fasciculus of the spinal cord with the progress of disease, suggesting that the degenerating axonal terminals of the dorsal ganglion cells back from the distal presynaptic parts in the gracile nucleus, along the tract of the gracile fasciculus, toward the cell bodies in the dorsal root ganglion. This phenomenon indicates that the distribution of spheroids is age dependent and reflects a dying-back process in degenerating axons. In addition to the gracile nucleus and the gracile fasciculus, which is one of the main ascending tracts of primary sensory neurons, it was noted that the other primary sensory neurons joined with some of the second-order neurons at the dorsal horn and neurons at all levels of the dorsal nucleus (Clarke's column) are also severely affected in this mutant. The incidence of the dystrophic axons are further extended to the spinocerebellar tract and to particular parts of the white matter of the cerebellum, such as the inferior cerebellar peduncle and the lobules of I-III and VIII in the vermis. These results indicate that this mutant mouse is a potential animal model for human degenerative disease of the nervous system, such as neuroaxonal dystrophy and the spinocerebellar ataxia.
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PMID:Axonal degeneration of ascending sensory neurons in gracile axonal dystrophy mutant mouse. 238 79

This paper examines the topography of neuronal degeneration in the central nervous system of the dystonia musculorum (dt) mutant mouse, revealed by selective silver impregnation, specific histochemical staining and electron microscopy. Neuronal lesions have been observed exclusively in the spinal cord, the medulla and the anterior lobe of the vermis. In the spinal cord, axonal degeneration was maximal among large and medium-sized primary sensory fibers, whereas thin caliber primary afferents were unaffected, with the exception of those containing acid phosphatase activity. In regions of laminae VI to VIII that receive numerous degenerative primary afferents, neurons undergoing different phases of degeneration (chromatolysis, lipid accumulation, dark shrunken necrosis) were constantly found. Most of the latter belonged to spinocerebellar neurons, owing to the presence of fiber degeneration in both spinocerebellar tracts and mossy fiber degeneration in the anterior vermal lobe. In the medulla only axonal degeneration was observed and was confined to three fiber systems: the dorsal column pathway, the sensory trigeminal fibers (both from the trigeminal ganglion and from the mesencephalic trigeminal nucleus), and the spinocerebellar fibers entering the cerebellum through the inferior and superior cerebellar peduncles. This study also suggests a simple pathophysiological mechanism for the onset and the progression of the degeneration: dystonic gene action would affect perinatally specific classes of sensory receptors, producing the degeneration of the nerve terminals and, progressively, the cell death of the sensory ganglion cells at their origin. This retrograde death, which results in the massive and early deafferentation of spinocerebellar neurons, would provoke, trans-neuronally, the impairment of these second order sensory neurons and the progressive degeneration of the spinocerebellar system. The close resemblance of the neuropathology of the mutant mouse to Friedreich's ataxia (the commonest form of human degenerative ataxic disorders) allows one to suppose that the dystonic mouse may be an optimal animal model for studying the genetic basis and the pathophysiological mechanisms of this form of human ataxia.
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PMID:Pathologic changes in the CNS of dystonia musculorum mutant mouse: an animal model for human spinocerebellar ataxia. 321

Temporal-spatial patterns of surviving Purkinje cells were studied quantitatively in a rat mutant (shaker) with differential hereditary cerebellar ataxia and Purkinje cell degeneration. Shaker rat mutants are characterized behaviorally as mild if they are ataxic or as strong if they have ataxia and tremor. Purkinje cells degenerate in both mild and strong shaker mutants, but the temporal and spatial patterns of cell death are strikingly different. In mild shaker mutants, Purkinje cell death is temporally restricted, with 31-46% of the Purkinje cells in lobules I-IX dying by 3 months of age. Very few Purkinje cells degenerate after this age. Purkinje cell death is spatially random. In lobules I-IX, every second, third, or fourth Purkinje cell degenerates. Purkinje cells in lobule X do not degenerate. In strong shaker mutants, Purkinje cell degeneration is temporally protracted and spatially restricted. By 3 months of age, most Purkinje cells in lobules I-VIa, -b, and -d have degenerated. Numerous Purkinje cells in the paravermis of lobules VIIb-VIII have also degenerated. Surviving Purkinje cells in the vermis and lateral hemisphere of lobules VIIb-VIII are aligned in parasagittally oriented stripes or transversely oriented bands. Purkinje cells continue to degenerate in localized areas of the posterior lobe such that, by 18 months of age, surviving Purkinje cells are limited primarily to lobules VIc, VIIa, IXd, and X. Quantitative analysis indicates that none of the Purkinje cells in these lobules degenerate.
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PMID:Spatial and temporal pattern of Purkinje cell degeneration in shaker mutant rats with hereditary cerebellar ataxia. 763 28

Meningiomas of the cerebellopontine angle (CPA) represent a clinically and surgically interesting entity. The opportunity of complete surgical excision and the incidence of impairment of nerval structures largely depend on the tumour biology that either leads to displacement of surrounding structures by an expansive type of growth or to an enveloping of nerval and vascular structures by an en plaque type of growth. As the origin and the direction of growth are very variable, the exact tumour extension in relation to the nerval structures and the tumour origin can be identified sometimes only at the time of surgery. Out of a series of 230 meningiomas of the posterior skull base operated between 1978 and 1993, data of 134 meningiomas involving the cerebellopontine angle are presented. There were 20% male and 80% female patients, age at the time of surgery ranging from 18 to 76 years, on the average 51 years. The clinical presentation was characterized by a predominant disturbance of the cranial nerves V (19%), VII (11%), VIII (67%) and the caudal cranial nerves (6%) and signs of ataxia (28%). 80% of the meningiomas were larger than 30 mm in diameter, 53% led to evident brainstem compression or dislocation and 85% extended anteriorly to the internal auditory canal. Using the lateral suboccipital approach in the majority of cases and a combined presigmoidal or combined suboccipital and subtemporal approaches in either sequence in 5%, complete tumour removal (Simpson I and II) was accomplished in 95% and subtotal tumour removal in 5%. Histologically the meningiotheliomatous type was most common (49%) followed by the mixed type (19%), fibroblastic (16%), psammomatous (7%), hemangioblastic (7%) and anaplastic (2%) types. Major post-operative complications were CSF leakage (8%) requiring surgical revision in 2% and hemorrhage (3%) requiring revision in 2%. While the majority of neurological disturbances showed signs of recovery, facial nerve paresis or paralysis was encountered in 17%, and facial nerve reconstruction was necessary in 7%. Hearing was preserved in 82% with improvement of hearing in 6%. The variability of tumour extension, the implications and limitations for complete surgical excision are discussed along with the experiences from the literature.
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PMID:Meningiomas of the cerebellopontine angle. 873 4

Two cases (case 1, a 45-year-old man; case 2, a 68-year-old man) of superficial siderosis of the central nervous system are presented. Main neurological symptoms were anosmia, sensorineural deafness, dysarthria, ataxia, and pyramidal tract signs. Lumbar puncture revealed bloody cerebrospinal fluid (CSF) in both cases. In case 1, the CSF became watery clear after administration of hemostatic medicines. T2-weighted magnetic resonance images showed cerebellar atrophy and marginal hypointensity of the brainstem, cerebellum, and the entire spinal cord. T2-weighted images of the cranial nerves showed hypointensity of the VIII nerves which were clinically impaired as compared with normointensity of the VII nerves which presented no clinical symptom. These findings may reflect difference in the degree of hemosiderin depostion between the VII and VIII nerves. While case 1 had a borderline score of WAIS-R (IQ79), case 2 showed overt dementia (performance IQ65). Positron emission tomography showed that cerebral blood flow and cerebral oxygen metabolism were reduced in the basal temporal lobes in both cases.
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PMID:[Two cases of superficial siderosis of the central nervous system. Findings of the cerebrospinal fluid, magnetic resonance imaging and positron emission tomography]. 882 97

Multiple myeloma (MM) is a plasma cell malignancy characterized by infiltration of bone marrow, bone destruction, infiltration of soft tissues with plasma cells, and suppression of normal hematopoiesis. The production of monoclonal immunoglobulins with or without light chains is a major feature of the disease. Full spectrum of plasma cell dyscrasias include monoclonal gammapathy of undetermined significance, smouldering myeloma, indolent multiple myeloma, and fully developed, symptomatic multiple myeloma. The usual presenting features of MM include bone pain, weakness, fatigue, fever and infection. Neurologic symptoms are less common but one must not forget that MM may present with a neurologic disease. Careful neurologic history and examination are mandatory in patients with MM. Neurologic symptoms may be a direct manifestation of MM or may be due to the immune effect of monoclonal proteins directed against different neural structures. Finally, metabolic consequences (uremia, hypercalcemia, hyperviscosity) of MM may produce a broad spectrum of different neurologic symptoms including headache, blurring of vision, drowsiness, precoma, coma, vertigo, ataxia, hemiparesis and epileptiform seizures. The most common location of bone changes in MM is the thoracic spine, where it causes osteolytic changes with consequent compressive fractures. The most disastrous sequel is paraplegia. Multiple vertebral involvement with the evidence of osteolytic changes in other bones is usual, but solitary vertebral myeloma may occur. Myeloma usually involves the bone of the vertebral body and then spreads into the extradural space. However, patients with solitary extradural myeloma have been reported. Skull myeloma is frequently asymptomatic. It may grow externally or, rarely, there is intracranial expansion. Involvement of the cranial nerves is not rare, with II, V, VI, VII and VIII cranial nerves being most often affected. Isolated intracerebral plasmacytomas are extremely rare. Diagnostic approach includes plain X-rays of the skeleton, which was found to be the method of choice for demonstration of osteolytic changes, whereas magnetic resonance with gadolinium enhancement most reliably displays the degree of vertebral involvement and demonstrates any associated soft tissue mass. Current treatment of osteolytic changes in multiple myeloma include chemotherapy, radiotherapy in combination with dexamethasone, monthly infusions of bisphosphonates, surgical decompression, and kyphoplasty. Therapeutic approach is dictated by the presenting symptoms. In case of pain as the predominant symptom, treatment with chemotherapy and radiotherapy may be appropriate. Compressive symptoms are relieved with dexamethasone followed by radiotherapy and chemotherapy. Surgical decompression is used in patients with vertebral collapse and vertebral instability. Kyphoplasty is a new method used in the treatment of osteolytic changes of vertebral bodies. A viscous cement is injected into the cavity by a balloon-like inflatable bone tampon. It has been successfully employed to improve the quality of life, to reduce pain, and to increase overall functioning in patients with vertebral compression fractures by restoring most of the original height of the vertebral body. Bisphosphonates reduce pain associated with osteolytic changes in multiple myeloma, but also significantly reduce skeletal events (pathologic fracture, spinal cord compression, surgery or irradiation of bone) via unknown mechanism. It seems that bisphosphonates, by inhibiting bone resorption, alter the microenvironment in which the MM cells grow.
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PMID:[Neurologic sequelae of bone changes in multiple myeloma and its therapy]. 1263 Mar 41

The cerebellar calcification (CC) rat is a new neurodegenerative mutant with severe Purkinje cell loss and symmetrical calcifications in the cerebellar cortex manifesting ataxia: lack of coordination in body movements. In the present study, histopathological features were examined in the Purkinje cell degeneration in postnatal homozygous suckling rats without clinical signs, which were genotyped by microsatellite markers. In addition, the calcified Purkinje cells were investigated ultrastructurally and elemental analysis was performed on the deposits. Body weight of the homozygous (cc/cc) rats was already slightly lower compared with the heterozygotes (cc/+) in the neonatal stage. The degeneration of the Purkinje cells in the cc/cc rats was recognized obviously in lobules VI, VII, VIII and IX from 14 days after birth, a few days before the appearance of the ataxic behavior. The Purkinje cells in the region along the fissure between the VIII and IX lobule areas were intensely positive for periodic acid-Schiff reaction specific to glycoconjugates, and in this region, calcium depositions were weakly positive for von Kossa's stain. Electron microscopy also revealed that the calcified Purkinje cells possessed numerous electron-dense bodies containing inclusions with cystic structures such as vesicles, mitochondria and lysosomes, and these bodies were mainly composed of calcium and phosphorous. These findings suggest abnormal storage of glycoconjugates might be a trigger of Purkinje cell degeneration and serves as a matrix for accumulation of calcium phosphate in the cerebellum of CC rats.
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PMID:Histological and ultrastructural features in the early stage of Purkinje cell degeneration in the cerebellar calcification (CC) rat. 1515 69

Patients with an endolymphatic sac tumor (ELST) typically present with palsy of cranial nerves VII and/or VIII; other presenting symptoms include hearing loss, otalgia, occipital headaches, cranial nerve palsies, vertigo, gait ataxia, tinnitus, and otorrhea. ELSTs are extremely vascular, and they can invade and destroy temporal bone. Because of these characteristics, they are often mistaken for glomus tumors of the skull base. We describe the clinical presentation, evaluation, and management of ELSTs based on our review of the limited literature and our experience with 3 adults who presented to our tertiary care referral center with large ELSTs. Although these patients presented late in the course of their disease, their symptoms were relatively minor. Preoperative tumor embolization was performed, anda near-complete resection was achieved via an extended transotic approach in all 3 patients. The facial nerve was preserved without transposition in the first patient, the second patient underwent a primary nerve anastomosis, and the third required a cable graft of the facial nerve. Postoperative radiation therapy was administered to 2 of these patients. Follow-up by MRI detected no evidence of recurrence in any of the 3 patients.
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PMID:Endolymphatic sac tumor: a report of 3 cases and discussion of management. 1731 32

Patients with cerebellar damage often present with the cerebellar motor syndrome of dysmetria, dysarthria and ataxia, yet cerebellar lesions can also result in the cerebellar cognitive affective syndrome (CCAS), including executive, visual spatial, and linguistic impairments, and affective dysregulation. We have hypothesized that there is topographic organization in the human cerebellum such that the anterior lobe and lobule VIII contain the representation of the sensorimotor cerebellum; lobules VI and VII of the posterior lobe comprise the cognitive cerebellum; and the posterior vermis is the anatomical substrate of the limbic cerebellum. Here we analyze anatomical, functional neuroimaging, and clinical data to test this hypothesis. We find converging lines of evidence supporting regional organization of motor, cognitive, and limbic behaviors in the cerebellum. The cerebellar motor syndrome results when lesions involve the anterior lobe and parts of lobule VI, interrupting cerebellar communication with cerebral and spinal motor systems. Cognitive impairments occur when posterior lobe lesions affect lobules VI and VII (including Crus I, Crus II, and lobule VIIB), disrupting cerebellar modulation of cognitive loops with cerebral association cortices. Neuropsychiatric disorders manifest when vermis lesions deprive cerebro-cerebellar-limbic loops of cerebellar input. We consider this functional topography to be a consequence of the differential arrangement of connections of the cerebellum with the spinal cord, brainstem, and cerebral hemispheres, reflecting cerebellar incorporation into the distributed neural circuits subserving movement, cognition, and emotion. These observations provide testable hypotheses for future investigations.
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PMID:Evidence for topographic organization in the cerebellum of motor control versus cognitive and affective processing. 2015 63


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