Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

Autosomal recessive Emery Dreifuss muscular dystrophy (AR-EDMD) is rare, with few reports in the medical literature. We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA). Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension.

The incidence and prevalence of Huntington's disease: a systematic review and meta-analysis.

Huntington's disease (HD) is a rare, neurodegenerative disorder characterized by chorea, behavioral manifestations, and dementia. The aim of this study was to estimate the incidence and prevalence of HD through a systematic review of the literature. Medline and Embase databases were searched using terms specific to HD as well as studies of incidence, prevalence, and epidemiology.

Corpus callosum and cingulum tractography in Parkinson's disease.

Background: In Parkinson's disease (PD) cell loss in the substantia nigra is known to result in motor symptoms; however widespread pathological changes occur and may be associated with non-motor symptoms such as cognitive impairment. Diffusion tensor imaging is a quantitative imaging method sensitive to the micro-structure of white matter tracts.

Objective: To measure fractional anisotropy (FA) and mean diffusivity (MD) values in the corpus callosum and cingulum pathways, defined by diffusion tensor tractography, in patients with PD, PD with dementia (PDD) and controls and to determine if these measures correlate with Mini-Mental Status Examination (MMSE) scores in parkinsonian patients.

Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism.

Background: Diagnostic considerations for juvenile onset Parkinsonism (onset at < 21 years of age) include juvenile Huntington disease, Wilson disease, dentatorubral-pallidoluysian atrophy (DRPLA), storage diseases, and mitochondrial cytopathies. Neuronal Intranuclear Inclusion Disease (NIID) must also be considered.

Case Report: We present a case of juvenile onset NIID with a predominantly Parkinsonian presentation, followed later by corticospinal, cerebellar, and lower motor neuron symptoms.

Corpus callosum in neurodegenerative diseases: findings in Parkinson's disease.

Corpus callosum area has been examined in neurodegenerative diseases as a marker for cortical pathology and for differential diagnosis; however, it has not been examined in Parkinson's disease (PD). We compared callosal area in patients with PD and PD with dementia (PDD) to healthy controls and patients with Alzheimer's disease (AD). We subsequently compared our results to a meta-analysis of studies examining callosal area in AD, frontotemporal dementia (FTD), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD).