Σάββατο 16 Νοεμβρίου 2019

The diagnostic value of SNpc using NM-MRI in Parkinson’s disease: meta-analysis
The above article was published online with incorrect author name. The right spelling should be Xiangming Wang instead of Xiangmin Wang. The correct name is presented here. The original article has been corrected.

Agenesis of internal carotid artery and deformation of caudate and nucleus accumbens

A case of recurrent vomiting: extending the spectrum of neuronal intranuclear inclusion disease

Headache and vision loss in a middle-aged women

The effects of robotic gait neurorehabilitation and focal vibration combined treatment in adult cerebral palsy

Analysis of the GCG repeat length in NIPA1 gene in C9orf72 -mediated ALS in a large Italian ALS cohort

Abstract

Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of upper and lower motor neurons. The hexanucleotide repeat expansion in C9orf72 gene (C9orf72-HRE) is the most frequent genetic cause of ALS. Since many ALS pedigrees showed incomplete penetrance, several genes have been analyzed as possible modifiers. Length of the GCG repeat tract in NIPA1 (non-imprinted in Prader-Willi/Angelman syndrome 1) gene has been recently investigated as a possible modifier factor for C9orf72-HRE patients with contrasting findings. To disclose the possible role of NIPA1 GCG repeat length as modifier of the disease risk in C9orf72-HRE carriers, we analyzed a large cohort of 532 Italian ALS cases enriched in C9orf72-HRE carriers (172 cases) and 483 Italian controls. This sample size is powered (92% power, p = 0.05) to replicate the modifier effect observed in literature. We did not observe higher frequency of NIPA1 long alleles (> 8 GCG) in C9orf72-HRE carriers (3.5%) compared with C9orf72-HRE negative patients (4.1%) and healthy controls (5%). For the latter comparison, we meta-analyzed our data with currently available literature data, and no statistically significant effect was observed (p = 0.118). In conclusion, we did not confirm a role of NIPA1 repeat length as a modifier of the C9orf72 ALS disease risk.

Non-motor symptoms of Parkinson’s disease: dopaminergic basis or not?

Combined superior rectus hypoplasia and superior oblique palsy without a trochlear nerve

Revisiting the diagnostic value of Evans’ index: lessons from an unusual case of normal pressure hydrocephalus with Evans’ index less than 0.3

Sporadic adult-onset spinocerebellar ataxias

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