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Results for “CEREBELLAR DISEASES”

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At least 937 records · Page 52Linked to original sources
PubMed1994

Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus.

The autosomal dominant cerebellar ataxias have proved particularly difficult to classify due to the lack of phenotypic concordance both within and between families. Genetic heterogeneity has been established, and disease loci for spinal cerebellar ataxia have been assigned to chromosomes 6 (SCA1), 12 (SCA2) and 14 (Machado Joseph disease (MJD)). Genetic analysis performed on a large Thai kindred with autosomal dominant cerebellar ataxia, in which frontal lobe signs and dementia are commonly observed in affected family members, exclude linkage to the SCA1, SCA2 and MJD loci. This demonstrates that mutation in at least one further locus can cause spinal cerebellar ataxia, indicating the need for caution in the use of markers for predictive testing or prenatal diagnosis these disorders.

Chromosome Mapping↗
PubMed1985

Quantitative measurement of smooth pursuit using the continuously changing sinusoidal wave in neurological patients.

In a previous paper [Ohashi, Watanabe, Kobayashi, Mizukoshi: ORL 47: 49-56] we developed a new sinusoidal wave with 20 continuously changing sinusoidal waves from 0.1 to 2.0 Hz and reported that in normal subjects the limit of smooth pursuit was 1.2 Hz, retinal error velocity (REV) was the most reliable parameter as input of smooth pursuit and amplitude gain was the most reliable parameter as output. In the present paper, we analyzed smooth pursuit system by the same method and discussed the relation between input and output of smooth pursuit in patients with neurological disorders. Our results indicated that the relationship between input and output of the smooth pursuit was particularly abnormal in patients with cerebellar disorders.

Brain Diseases↗
PubMed2003

Gait rehabilitation in a patient affected with Charcot-Marie-Tooth disease associated with pyramidal and cerebellar features and blindness.

Charcot-Marie-Tooth (CMT) disease, an inherited neuropathy characterized by length-dependent degeneration of the motor and sensory nerve fibers with consequent distal muscle atrophy and sensory reduction, can be associated with symptoms and signs of involvement of the central nervous system and/or cranial nerves. We present a patient with relatively severe CMT, cerebellar ataxia, pyramidal involvement, and blindness due to Leber's hereditary optic neuropathy. The patient presented with poor standing and gait, with consequent severe disability. Factors responsible for the patient's functional impairment (plantarflexor failure, footdrop, foot rotation, knee flexor contracture, poor proprioception, cerebellar dysfunction, spastic paraparesis, blindness) were identified and addressed by a rehabilitation management, which included, as a main intervention, ankle stabilization by drop-foot boots instead of ankle-foot orthoses. Improved balance and independent ambulation resulted from rehabilitation.

Activities of Daily Living↗
PubMedDate not supplied

Abnormal eye movements in rubella syndrome.

A patient with a characteristic picture of rubella eye disease is presented. Its interest lies in the associated finding of asymmetric nystagmus and ocular flutter. The presence of flutter would indicate cerebellar or cerebellar pathway disease, a previously unassociated finding.

Cataract↗
PubMed2001

Cerebellar blood flow in methylmercury poisoning (Minamata disease).

We looked at regional cerebellar blood flow in patients with Minamata disease (MD) using technetium-99m ethyl cysteinate dimer (99m-Tc-ECD). We carried out single-photon emission computed tomography (SPECT) on 15 patients with MD (eight men, seven women, aged 51-78 years, mean 70.5 years) and 11 control subjects (eight men, three women, aged 62-80 years, mean 72.5 years). Regional blood flow was measured in the superior, middle, and inferior portions of the cerebellar hemispheres, and the frontal, temporal and occipital cerebral lobes. The degree of cerebellar atrophy was assessed on MRI. There were significant differences in regional blood flow in all parts of the cerebellum between patients and control, but no significant decrease was observed in the cerebrum. Blood flow was lower in the inferior cerebellum than in the other parts. Even in patients without cerebellar atrophy, flow was significantly decreased regional blood flow in the inferior part.

Aged↗