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

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome, usually due to Alzheimer's disease. The first symptoms are progressive impairment of visuo spatial (Balint's and Gertsmann's syndromes) or visuo perceptive (visual agnosia, alexia) function. Episodic memory and executive function are spared until later stages. We report two males aged 51 and 55years and three females aged 50, 54 and 56 years, with posterior cortical atrophy. Ophthalmologic study was normal in all. Presenting signs and symptoms were visual ataxia, simultagnosia, agraphia, acalculia, spatial disorientation and unilateral neglect (Balint's and Gerstmann's syndromes). Apperceptive visual agnosia, aphasia, apraxia and alexia were also observed. One female had cortical blindness. Structural images were inconclusive, but PET scan and SPECT disclosed functional impairments in occipitotemporal or occipitoparietal areas.
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PMID:[Posterior cortical atrophy. Report of five cases]. 2009 9

Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive neurodegenerative disorder characterized by retinitis pigmentosa and sensory ataxia. Previous studies of PCARP in two families showed a linkage to 1q31-q32. However, detailed investigations on the clinical presentations as well as molecular genetics of PCARP have been limited. Here, we describe a Japanese consanguineous family with PCARP. Two affected siblings suffered from childhood-onset retinitis pigmentosa and slowly progressive sensory ataxia. They also showed mild mental retardation, which has not been described in patients with PCARP. Parametric linkage analysis using high-density single nucleotide polymorphism arrays supported a linkage to the same locus. Target capture and high-throughput sequencing technologies revealed a novel homozygous c.1477G>C (G493R) mutation in FLVCR1, which cosegregated with the disease. A recent study has identified three independent mutations in FLVCR1 in the original and other families. Our results further confirmed that PCARP is caused by mutations in FLVCR1.
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PMID:Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 2126 18

Posterior fossa syndrome can occur after neurosurgical resections of childhood posterior fossa tumors, such as medulloblastomas. Posterior fossa syndrome is characterized by transient mutism, emotional lability, cognitive deficits, weakness, ataxia, and cranial nerve dysfunction. Symptoms generally appear 1 to 3 days after surgery and persist for months to years. Neuroscience nurses play an integral role in helping affected children and their families through the diagnosis, treatment, and sequelae of this frightening syndrome.
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PMID:Clinical case study: a 4-year-old boy with posterior fossa syndrome after resection of a medulloblastoma. 2179 45

Posterior cortical atrophy (PCA) is rare neurodegenerative dementia, clinically characterized by a progressive decline in higher-visual object and space processing. After a brief review of the literature on the neuroimaging in PCA, here we present a study of the brain structural connectivity in a patient with PCA and progressive isolated visual and visuo-motor signs. Clinical and cognitive data were acquired in a 58-years-old patient (woman, right-handed, disease duration 18 months). Brain structural and diffusion tensor (DT) magnetic resonance imaging (MRI) were obtained. A voxel-based morphometry (VBM) study was performed to explore the pattern of gray matter (GM) atrophy, and a fully automatic segmentation was assessed to obtain the hippocampal volumes. DT MRI-based tractography was used to assess the integrity of long-range white matter (WM) pathways in the patient and in six sex- and age-matched healthy subjects. This PCA patient had a clinical syndrome characterized by left visual neglect, optic ataxia, and left limb apraxia, as well as mild visuo-spatial episodic memory impairment. VBM study showed bilateral posterior GM atrophy with right predominance; DT MRI tractography demonstrated WM damage to the right hemisphere only, including the superior and inferior longitudinal fasciculi and the inferior fronto-occipital fasciculus, as compared to age-matched controls. The homologous left-hemisphere tracts were spared. No difference was found between left and right hippocampal volumes. These data suggest that selective visuo-spatial deficits typical of PCA might not result from cortical damage alone, but by a right-lateralized network-level dysfunction including WM damage along the major visual pathways.
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PMID:Brain networks in posterior cortical atrophy: a single case tractography study and literature review. 2209 55

Posterior fossa involvement, which may be focal or diffuse, is an uncommon finding in paediatric patients. Acute cerebellitis is the first condition to be suspected among the diffuse forms, and ataxia is the most characteristic symptom. This condition is occasionally difficult to diagnose clinically, thus imaging tests play an important role in this. However, there are other rare conditions which may be clinically and radiologically similar to acute cerebellitis and which should be taken into account when making a differential diagnosis. The aim of this article is to present five diseases with diffuse brain involvement in paediatric patients and describe how they show up in MR imaging.
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PMID:[Diffuse brain involvement in paediatrics: magnetic resonance findings]. 2230 16

Among posterior circulation arteries, the intracranial vertebral artery (ICVA) has been given the least attention, especially concerning treatment of occlusive lesions. Early clinicopathological studies showed that the ICVA was often occluded in patients with lateral medullary and posterior inferior cerebellar infarcts. Severe stenosis or occlusion of the ICVA was the most common arterial lesion among the 408 patients in the New England Medical Center Posterior Circulation Registry (NEMC-PCR). In this registry, the distal portion of the artery was most often involved, sometimes with spread into the basilar artery. ICVA occlusive lesions were often bilateral and very often accompanied by basilar and cervical vertebral artery occlusive lesions. Patients with bilateral ICVA occlusions often had attacks of dizziness, blurred vision, and ataxia during months and years but rarely later developed disabling infarction. Most posterior circulation infarcts in patients with ICVA occlusive lesions were located in the middle and distal posterior circulation territories and were rostral to the medulla and inferior cerebellum. Although diagnostic techniques now image the ICVA and its lesions well, the optimal treatment of patients with various ICVA occlusive lesions has very rarely been analyzed or reported. The therapeutics of patients with ICVA disease is uncharted territory and begs for attention and clarification.
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PMID:The intracranial vertebral artery: a neglected species. The Johann Jacob Wepfer Award 2012. 2275 2

Posterior reversible encephalopathy syndrome (PRES) is a syndrome characterised clinically by headache, confusion, seizures, vomiting and visual disturbances with radiographic vasogenic oedema. CT imaging is typically normal, non-specific or suggestive of PRES or stroke. MRI usually shows symmetrical parietal and occipital lobe vasogenic oedema. The authors discuss a 58-year-old man presenting with right homonymous haemianopia, hypertension and ataxia. CT imaging suggested a left occipital lobe space occupying lesion (SOL). Surprisingly, subsequent contrast enhanced MRI showed characteristic bilateral vasogenic oedema in occipital and temporal lobes indicative of PRES. Hypertension, an associated predisposing factor, was present in this case and symptoms improved with antihypertensive therapy. This case highlights PRES may present with asymmetrical CT imaging findings mimicking a SOL. PRES is a potentially reversible condition with prompt treatment. MRI is essential in diagnosing both PRES and the cause of acute visual loss.
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PMID:Posterior reversible encephalopathy syndrome mimicking a cerebral tumour. 2276 Dec 34

Posterior Cortical Atrophy (PCA) is a rare clinical syndrome characterized by the predominance of higher-order visual disturbances such as optic ataxia, a characteristic of Balint's syndrome. Deficits result from progressive neurodegeneration of occipito-temporal and occipito-parietal cortices. The current study sought to explore the visuomotor functioning of four individuals with PCA by testing their ability to reach out and grasp real objects under various viewing conditions. Experiment 1 had participants reach out and grasp simple, rectangular blocks under visually- and memory-guided conditions. Experiment 2 explored participants' abilities to accurately reach for objects located in their visual periphery. This investigation revealed that PCA patients demonstrate many of the same deficits that have been previously reported in other individuals with optic ataxia, such as "magnetic misreaching"-a pathological reaching bias toward the point of visual fixation when grasping peripheral targets. Unlike many other individuals with optic ataxia, however, the patients in the current study also show symptoms indicative of damage to the more perceptual stream of visual processing, including abolished grip scaling during memory-guided grasping and deficits in face and object identification. These investigations are the first to perform a quantitative analysis of the visuomotor deficits exhibited by patients with PCA. Critically, this study helps characterize common symptoms of PCA, a vital first step for generating effective diagnostic criteria and therapeutic strategies for this understudied neurodegenerative disorder.
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PMID:Posterior cortical atrophy: visuomotor deficits in reaching and grasping. 2380 56

Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive disorder characterized by severe sensory ataxia, muscle weakness and atrophy, and progressive pigmentary retinopathy. Recently, mutations in the FLVCR1 gene were described in four families with this condition. We investigated the molecular basis and studied the phenotype of PCARP in a new family. The proband is a 33-year-old woman presented with sensory polyneuropathy and retinitis pigmentosa (RP). The constellation of clinical findings with normal metabolic and genetic evaluation, including mitochondrial DNA (mtDNA) analysis and normal levels of phytanic acid and vitamin E, prompted us to seek other causes of our patient's condition. Sequencing of FLVCR1 in the proband and targeted mutation testing in her two affected siblings revealed two novel variants, c.1547G > A (p.R516Q) and c.1593+5_+8delGTAA predicted, respectively, to be highly conserved throughout evolution and affecting the normal splicing, therefore, deleterious. This study supports the pathogenic role of FLVCR1 in PCARP and expands the molecular and clinical spectra of PCARP. We show for the first time that nontransmembrane domain (TMD) mutations in the FLVCR1 can cause PCARP, suggesting different mechanisms for pathogenicity. Our clinical data reveal that impaired sensation can be part of the phenotypic spectrum of PCARP. This study along with previously reported cases suggests that targeted sequencing of the FLVCR1 gene should be considered in patients with severe sensory ataxia, RP, and peripheral sensory neuropathy.
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PMID:Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 2462 82

A previously healthy 9-year-old girl presented with ataxia, headaches, and nausea of 1 month's duration. Magnetic resonance imaging demonstrated a large posterior fossa mass. Posterior segment examination revealed pigmented ocular fundus lesions (POFLs), which included cometoid dark lesions with depigmented tails and smaller, dark midperipheral lesions. The patient underwent resection for a medulloblastoma. Because of these specific retinal lesions in combination with her medullobastoma, a diagnosis of Turcot syndrome was made and subsequently confirmed by genetic testing. Turcot syndrome is one of the familial adenomatous polyposis (FAP) syndromes. This diagnosis may be life-saving because 100% of FAP patients develop colon cancer that can be cured only early with timely colectomy.
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PMID:A potential life-saving diagnosis--recognizing Turcot syndrome. 2469 20


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