ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family.

Background: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion.

Methods: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions.

Magnetic resonance spectroscopy as a predictor of conversion of mild cognitive impairment to dementia.

Background And Purpose: Proton magnetic resonance spectroscopy ((1)H-MRS) is one of the imaging techniques that could be potentially useful for identification of patients with mild cognitive impairment (MCI) who are at increased risk of developing dementia. The aim of the study was to investigate if there is a difference in brain metabolism between stable MCI patients and converters to dementia and if a use of (1)H-MRS can predict the conversion from MCI to dementia.

Material And Methods: Forty-one amnestic MCI patients and 35 cognitively unimpaired controls were examined by (1)H-MRS (TE - 35 ms) at baseline.