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)

GW bodies (GWBs) are unique cytoplasmic structures that contain the mRNA binding protein GW182 and other proteins involved in mRNA processing pathways. The rationale for this study arose from clinical studies indicating that 33% of patients with GWB autoantibodies have a motor/sensory neuropathy and/or ataxia. The novelty of this study is the identification of GWBs in astrocytes and astrocytoma cells within cell bodies and cytoplasmic projections. Astrocytoma GWBs exhibit complex heterogeneity with combinations of LSm4 and XRN1 as well as Ago2 and Dicer, key proteins involved in mRNA degradation and RNA interference, respectively. GWB subsets contained the mRNA transport and stabilization proteins SYNCRIP, hnRNPA1, and FMRP, not previously described as part of the GWB complex. Immunoprecipitation of astrocytoma GWBs suggested that Dicer, hDcp, LSm4, XRN1, SYNCRIP, and FMRP form a multiprotein complex. GWBs are likely involved in a number of regulatory mRNA pathways in astrocytes and astrocytoma cells.
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PMID:Markers of mRNA stabilization and degradation, and RNAi within astrocytoma GW bodies. 1766 65

The region of the foramen magnum (FM) presents an especially difficult area for therapeutic intervention. Indeed, this location is challenging to access surgically, particularly in the case of intramedullary and anterior lesions. Therefore, the potential for morbidity associated with therapy to the foramen magnum, most frequently in the form of lower cranial nerve deficits, has encouraged the search for methods that can effectively treat lesions of this region while sparing the important neighboring structures. We report our experience in the use of Cyberknife radiosurgery as a treatment option for these lesions. Thirty-five patients (17 men, 18 women; mean age, 51 yr; range, 18-83) with 35 lesions either spanning or approximating the foramen magnum were treated with the CyberKnife radiosurgical system. Histologies were determined either by prior surgery or radiographic criteria and included 25 benign tumors (nine meningiomas, five schwannomas, four neurofibromas, three hemangioblastomas, two ependymomas, one chordomas, and one pilocytic astrocytoma) along with 10 malignant growths (nine metastases and one chondrosarcoma). Twenty-seven (77%) patients presented with at least one sign and/or symptom, while eight (23%) patients were completely asymptomatic. The most common symptoms were headache, limb numbness, and limb/truncal ataxia, all of which were reported by ten (29%) patients. Among cranial neuropathies, CN XII dysfunction was evident in four (11%) patients. The specific fractionation schedule (mean of 1.8 sessions; range, 1-5) was based on the size of the treated lesion. The mean dose utilized was 19 Gy. Radiographic follow-up was obtained for twenty-three (66%) patients. Nine of the twenty-three (39%) were stable in size, ten lesions decreased in size (43%), and four lesions increased in size (17%). In terms of symptom relief, follow-up was collected for twenty-four (69%) patients. Eleven (46%) of these patients experienced no change in their signs or symptoms, while seven (29%) patients experienced improvement. Six (25%) patients witnessed deterioration in their signs and symptoms. Overall, eighteen (75%) patients had their signs and symptoms either stabilize or improve. There were eleven (31%) deaths in our series, eight of which were related to the disease (though not directly related to CyberKnife treatment) and three of which were from unrelated causes. Complications directly related to CyberKnife radiosurgery were noted in four (11%) of the thirty-five patients. These included one case of temporary emesis immediately following treatment, one case of cystic enlargement two months out, and two cases of radiation necrosis (occurring 1.5 yrs and 2.5 yrs out from treatment). Cyberknife radiosurgery can be an effective treatment for many foramen magnum lesions.
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PMID:CyberKnife radiosurgery for lesions of the foramen magnum. 1766 41

The cerebellum is important for the coordination of fluent speech. The authors studied how childhood cerebellar tumors affect long-term neuromotor speech outcomes, including the relation between outcome and tumor type, radiation, age at diagnosis, and survival years. Videotaped speech samples of child and adult long-term survivors of childhood cerebellar astrocytoma (nonradiated) and medulloblastoma (radiated) tumors and healthy controls were analyzed by 2 speech pathologists for ataxic dysarthria, dysfluency, and speech rate. Ataxia varied with tumor type/radiation. Medulloblastoma survivors had significantly more ataxic dysarthric features than either survivors of astrocytomas or controls, who did not differ from each other. Dysfluency varied with a history of a posterior fossa tumor. Medulloblastoma and astrocytoma survivors were each significantly more dysfluent than controls but did not differ from each other. Speech rate varied with age and tumor type. Adult controls were significantly faster than child controls, although adult tumor survivors were comparable to their child counterparts. Adult controls had significantly faster speech rates than adult survivors of medulloblastoma tumors. Ataxic dysarthric speech characteristics are more frequent in radiated survivors of medulloblastoma tumors than nonradiated survivors of astrocytoma tumors. Dysfluent and slow speech occur in cerebellar tumor survivors, regardless of tumor type and radiation history. Cerebellar tumors in childhood limit speech rate in adulthood.
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PMID:Long-term neuromotor speech deficits in survivors of childhood posterior fossa tumors: effects of tumor type, radiation, age at diagnosis, and survival years. 1771 77

Ataxia telangictasia mutated (ATM) is involved in DNA repair pathway and cell-cycle checkpoints. ATM alterations were found in medulloblastomas, gliomas, but not in astrocytoma. The polymorphism D1853N was reported in healthy individuals and medulloblastomas. We could observe this polymorphism, heterozygously, in a proband affected with astrocytoma and traced it through her pedigree. We propose the three-hit hypothesis as a triangle initiators includes D1853N as a first predisposing hit, IVS 38- 63T --> A as a second hit deriving from the first somatic evolution before differentiation and IVS 38- 30 A --> G as a third hit through the development of an astrocytoma. In addition, the D1853N polymorphism was occurred in different allele from IVS 38- 63T --> A and IVS 38- 30 A --> G.
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PMID:Three-hit hypothesis in astrocytoma: tracing the polymorphism D1853N in ATM gene through a pedigree of the proband affected with primary brain tumor. 1846 41

Malignant cerebellar astrocytoma is very rare and the prognosis is extremely poor. We report herein the case of an elderly patient with malignant cerebellar astrocytoma. This 80-year-old man initially presented with dizziness and ataxia of the right hand. Metastatic cerebellar tumor was diagnosed on first admission, based on a past history of colon cancer treated by surgery and magnetic resonance imaging (MRI) findings supporting the diagnosis of metastasis. The patient underwent gamma knife surgery (20 Gy) and was discharged. Follow-up after discharge was insufficient. Two years after gamma knife surgery, he returned to our hospital complaining of dizziness, headache, and right limb ataxia. MRI revealed a cystic mass in the right cerebellar hemisphere, and the lesion was removed by right suboccipital craniotomy. The tumor represented malignant astrocytoma. Optimal management of patients harboring sush difficult. to-treat tumors, including the role of gamma-knife radiosurgery, is discussed.
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PMID:[Elderly patient with cerebellar malignant astrocytoma]. 1880 Jun 35

We report on two patients with rare major intratumoral hemorrhage following ventriculoperitoneal shunt in posterior fossa tumors. A 28-year-old woman with a midline posterior fossa lesion, whose imaging features suggested a fourth ventricular ependymoma with obstructive hydrocephalus, was subjected to a right ventriculoperitoneal shunt. Her consciousness deteriorated, and she experienced massive intratumoral hemorrhage and later died. An eight-year-old girl presented with raised intracranial pressure and ataxia caused by vermian astrocytoma with obstructive hydrocephalus. She also developed a massive tumor bleed following a ventriculoperitoneal shunt and was subjected to emergency decompression of the tumor with the bleeding. She remained vegetative at discharge and died 18 months later. Intratumoral hemorrhage is a rare but important cause of morbidity and mortality in patients with posterior fossa tumors who undergo ventriculoperitoneal shunt.
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PMID:Fatal intratumoral hemorrhage in posterior fossa tumors following ventriculoperitoneal shunt. 1901 6

Leptomeningeal dissemination of low-grade gliomas is an uncommon event. A 43-year old male presented with dizziness, gait ataxia, and diplopia. A nonenhancing lesion in the right cerebellar peduncle was identified, subtotally resected, and diagnosed as a grade II astrocytoma. After one year a nodular spread in the brain and leptomeninges was diagnosed, so the patient started chemotherapy with temozolomide and liposomal cytarabine. Complete remission was achieved after 12 months of treatment and the patient is still free from the disease after a follow-up of 24 months. We suggest that this combination may be a valuable treatment option.
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PMID:Intrathecal liposomal cytarabine in combination with temozolomide in low-grade oligoastrocytoma with leptomeningeal dissemination. 1987

This study was carried out in the department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh, during the period of January 2003 to December 2006 to elucidate the effectiveness of surgical treatment in the management of low grade astrocytoma of brain. For this purpose, a total number of 50 cases admitted during the study period with low grade astrocytoma of brain supported by clinical features and radiological investigations (CT and MRI scan) were included in this study. The mean age of the patient was a 27.3+/-16.9 year ranging from 1.8 to 65.0 years. Males (64.0%) were more in comparison to females (36.0%) with a male female ratio of 1.8:1. The main presenting complaints were headache (100%), convulsion (84.0%), vomiting (80.0%), visual impairment (20.0%), motor deficit (16.0%) and ataxia (14.0%). All cases had a definite diagnostic investigation at the time of admission. Plain x-ray skull was done in all patients followed by CT scan (70%), MRI scan (60%) and both CT and MRI scan (64.0%). Out of 50 patients 60.0% had gross total removal of tumor and 40.0% sub total tumor resection. Histopathological study was done in all cases after tumor resection. Among the gross total tumor removal cases highest percentage had good recovery (93.4%) in the immediate post operative period. Only one (3.3%) patient developed severe disability and equal percentage had moderate disability. Another 2(4.0%), those underwent subtotal tumor resection died during subsequent follow up period at 8th and 14th postoperative day.
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PMID:Surgical outcome of low grade astrocytoma of brain. 2039 10

Multicentric Gliomas, both supratentorial and infratentorial, with varying histopathological picture is extremely rare. We report a unique occurrence of such a combination in a 50-year-old man who presented with features of elevated intracranial pressure, ataxia and vertigo. Magnetic resonance imaging showed a diffuse non-enhancing lesion in the temporal lobe and insula and another non-contigous well defined enhancing lesion in the cerebellum. Both the lesions had mass effect. The lesions were decompressed; first the temporal lesion and then the cerebellar lesion. Histopathology revealed grade II astrocytoma in the temporal lobe and glioblastoma multiforme in the cerebellum. He recieved whole brain radiotherapy with which he showed symptomatic improvement and survived for 1.5 years.
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PMID:Cerebellar glioblastoma multiforme with non-contiguous grade 2 astrocytoma of the temporal lobe in the same individual. 2073 16

A 70-year-old woman with neurofibromatosis type 1 (NF-1) presented with a primary cerebellar pilocytic astrocytoma (PA) with anaplastic features manifesting as worsening headache and ataxia. Magnetic resonance (MR) imaging on admission showed a diffusely enhanced solid mass in the left cerebellar hemisphere, although MR imaging showed no abnormalities 2 years before admission. Histological examination after gross total removal of the tumor exhibited a biphasic pattern with marked Rosenthal fibers, together with some malignant features including frequent mitoses and invasive growth pattern. The final diagnosis was PA with anaplastic features. Previous PA cases with mitotic activity and endothelial proliferation, and/or palisading necrosis have been classified as anaplastic PA (or PA with anaplastic features). In the present case, the tumor histology corresponded to this designation. The present case indicates that PAs with anaplastic features can occur in patients with NF-1.
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PMID:Primary cerebellar pilocytic astrocytoma with anaplastic features in a patient with neurofibromatosis type 1 - case report - . 2151 58


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