Psychogenic movement disorders (PMD) represent a diagnostically challenging group of patients in movement disorders. Finger tapping tests (FTT) have been used in neuropsychiatric evaluations to identify psychogenic conditions, but their use in movement disorders has been limited to the quantification of upper extremity disability in idiopathic Parkinson disease (IPD). We evaluated the ability o...

Disease-causing mutations in genes encoding membrane proteins may lead to the production of aberrant polypeptides that accumulate in the endoplasmic reticulum (ER). These mutant proteins have detrimental conformational changes or misfolding events, which result in the triggering of the unfolded protein response (UPR). UPR is a cellular pathway that reduces ER stress by generally inhibiting tran...

Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the cli...

P elizaeus-Merzbacher disease (PMD, MIM 312080) is an X linked disorder characterised by dysmyelination of the central nervous system (CNS) 2 (see review by Koeppen and Robitaille). Two main forms of the disease, a connatal and a classical type, are recognised. The connatal type has a severe course with feeding problems, progressive pyramidal and extrapyramidal symptoms, laryngeal stridor, micr...

Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disease resulting from mutations, deletions, or duplications of the proteolipid protein (PLP) gene. Distinguishing features of PMD include pleiotropy and a range of disease severities among patients. Previously, we demonstrated that, when expressed in transfected fibroblasts, many naturally occurring mutant PLP alleles encode proteins that ...

The unfolded protein response (UPR) is a eukaryotic signaling pathway linking protein flux through the endoplasmic reticulum to transcription and translational repression. Herein, we demonstrate UPR activation in the leukodystrophy Pelizaeus-Merzbacher disease (PMD) as well as in three mouse models of this disease and transfected fibroblasts expressing mutant protein. The CHOP protein, widely k...

BACKGROUND AND PURPOSE Psychogenic movement disorders (PMD) after war or mass vaccination was reported and well known disease entity already. However, we have seldom been met those patients because we don't have any chance to experience of those events. Recently, influenza A (H1N1) spreads around world, and many countries have a program of mass vaccination of H1N1. Although PMD in adult is well...

Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus-Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependa...

We examined two sibs with the classic form of Pelizaeus-Merzbacher disease (PMD) and their relatives. Electromyographic-electroneurographic studies and magnetic stimulation of motor pathways were performed. In both patients we found an absence of compound motor action potential (cMAP) after stimulation of the motor cortex and a normal conduction time by stimulating the cervical roots. Despite r...