Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Case ReportsJapanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.
A GGGGCC hexanucleotide repeat expansion in C9ORF72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in white populations. The diseases resulting from this expansion are referred to as 'c9FTD/ALS'. It has been suggested that c9FTD/ALS arose from a single founder. However, the existence of c9FTD/ALS in non-white populations has not been evaluated. ⋯ C9ORF72 repeat expansions were present in a Japanese cohort of ALS patients, but they were rare. Intriguingly, Japanese patients appear to carry the same risk haplotype identified in white populations.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.
Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-Tooth 1A (CMT1A) disease. Although mainly expressed in the PNS, PMP22 mRNA and protein are also present in the central nervous system (CNS). ⋯ This study demonstrates that altered PMP22 gene expression induces significant CNS alterations in patients with HNPP and CMT1A, including cerebral WM abnormalities and cognitive impairment.
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J. Neurol. Neurosurg. Psychiatr. · Apr 2013
Review Meta AnalysisInterferon β for secondary progressive multiple sclerosis: a systematic review.
It is unclear whether recombinant β interferons (IFNβ) can be effective in secondary progressive multiple sclerosis (SPMS). The aim was to determine whether IFNβ can reduce the risk of disability and cognitive impairment progression in SPMS. ⋯ 3 year treatment with IFNβ does not delay permanent disability in SPMS but reduces relapse risk, indicating that the anti-inflammatory effect of IFNβ is unable to prevent MS progression once it has become established.