The 18F-FDG PET cingulate island sign and comparison to 123I-beta-CIT SPECT for diagnosis of dementia with Lewy bodies.

Unlabelled: Neuroimaging is increasingly used to supplement the clinical diagnosis of dementia with Lewy bodies (DLB) by showing reduced occipital metabolism and perfusion and reduced striatal dopaminergic innervation. We aimed to optimize the interpretation of (18)F-FDG PET images for differentiating DLB from Alzheimer disease (AD) and to compare the results with dopamine transporter imaging using (123)I-beta-carbomethoxy-3ss-(4-iodophenyl)tropane ((123)I-beta-CIT) SPECT.

Methods: Fourteen subjects with a clinical diagnosis of DLB and 10 with AD underwent both (18)F-FDG PET and (123)I-beta-CIT SPECT.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B families in whom a dynamin 2 mutation had been identified: Gly358Arg (Spain); Asp551_Glu553del; Lys550fs (North America); Lys558del (Belgium); Lys558Glu (Australia, the Netherlands) and Thr855_Ile856del (Belgium). The Gly358Arg and Thr855_Ile856del mutations were novel, and in contrast to the other Charcot-Marie-Tooth-related mutations in dynamin 2, which are all located in the pleckstrin homology domain, they were situated in the middle domain and proline-rich domain of dynamin 2, respectively.

Physiological falls risk assessment in older people with Alzheimer's disease.

Background: Falls are common in people with Alzheimer's disease (AD). There is some evidence that deficits in vision, peripheral sensation, strength, reaction time and balance may be partly responsible for this increased risk.

Aims: To determine the feasibility and test-retest reliability of a physiological test battery designed to assess falls risk [the Physiological Profile Assessment (PPA)] in people with AD, and to compare their PPA scores to age- and sex-matched controls.

Quantitative gait analysis in patients with dementia with Lewy bodies and Alzheimer's disease.

Gait disorders in people with dementia have been documented in a number of studies. There is some preliminary evidence suggesting there may be a relationship between dementia type and gait abnormality. Quantitative gait analysis has not previously been reported for people diagnosed with dementia with Lewy bodies (DLB).

Gait variability in community dwelling adults with Alzheimer disease.

Studies have shown that measures of gait variability are associated with falling in older adults. However, few studies have measured gait variability in people with Alzheimer disease, despite the high incidence of falls in Alzheimer disease. The purpose of this study was to compare gait variability of community-dwelling older adults with Alzheimer disease and control subjects at various walking speeds.

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of peripheral neuropathies. Different chromosomal loci have been linked with three autosomal dominant, 'intermediate' types of CMT: DI-CMTA, DI-CMTB and DI-CMTC. We refined the locus associated with DI-CMTB on chromosome 19p12-13.

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region.

Charcot-Marie-Tooth (CMT) neuropathy is one of the most common hereditary disorders of the human peripheral nervous system. The CMT syndrome includes weakness and atrophy of distal muscles, high arched feet (pes cavus), depressed or absent deep tendon reflexes, and mild sensory loss. Dominant intermediate CMT (DI-CMT) neuropathy is a form of CMT with intermediate median motor nerve conduction velocities.