SUPR
Studies on hereditary ataxias and spastic paraparesis
Dnr:

sens2020025

Type:

SNIC SENS

Principal Investigator:

Martin Paucar Arce

Affiliation:

Karolinska Institutet

Start Date:

2021-01-14

End Date:

2025-06-01

Primary Classification:

30107: Medical Genetics

Allocation

Abstract

Our emphasis is to study the most common nucleotide expansions associated with ataxias. One of these disorders are is associated with premutations in FMR1. Premutations in FMR1 confer an age-dependent risk to develop fragile X-tremor-ataxia syndrome (FXTAS) particularly for male premutation carriers (PMC) from age 50 years. The range of premutations spans between 55-200 CGG repeats in FMR1. More than 200 CGG expansions constitute a full mutation which causes Fragile X syndrome (FXS). FXS is in contrast to FXTAS a non-progressive condition. 20% of female premutation carriers (PMC) develop premature ovarian failure. It is rare for female PMCs to develop FXTAS. Our intention is to characterize a FMR1 cohort and to determine the prevalence of PMC for FMR1, and intermediate alleles for FMR1. Our studies have been approved by the Swedish Ethical Review Authority (Dnr 2016/2503-31/2).