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Related Experiment Video

Updated: May 28, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

FTD and ALS: genetic ties that bind.

Harry T Orr¹

¹Institute for Translational Neuroscience, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. orrxx002@umn.edu

|October 25, 2011

Summary

This summary is machine-generated.

A mutation in C90RF72, a hexanucleotide expansion, is identified as the cause of inherited amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery offers new molecular insights into these linked neurodegenerative diseases.

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are distinct neurodegenerative disorders.
These conditions can sometimes co-occur, suggesting shared underlying mechanisms.
The genetic basis for familial forms of ALS and FTD has been a significant research focus.

Purpose of the Study:

To identify the specific genetic mutation responsible for inherited forms of ALS and FTD.
To elucidate the molecular pathways linking ALS and FTD pathogenesis.

Main Methods:

Genetic analysis of affected families.
Identification of mutations in chromosomal region 9p.
Characterization of a hexanucleotide repeat expansion in the C90RF72 gene.

Main Results:

Two independent research groups identified a hexanucleotide repeat expansion in the C90RF72 gene as the common cause of familial ALS/FTD.
This mutation is located in the chromosomal region 9p, a known locus for these disorders.
Further studies on X-linked ALS/FTD provide additional molecular insights.

Conclusions:

The C90RF72 hexanucleotide expansion is a primary genetic driver for a significant proportion of familial ALS and FTD cases.
This finding provides a crucial molecular starting point for understanding the shared pathogenesis of ALS and FTD.
Future research can now focus on the specific molecular pathways affected by this mutation to develop targeted therapies.