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Protein Families

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism. Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members. If these new proteins contain similar amino acids in key...

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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

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The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity

Maria Pia Giannoccaro¹, Anna Bartoletti-Stella^1,2,3, Silvia Piras³

¹Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.

Journal of Alzheimer'S Disease : JAD

|February 27, 2018

Summary

The Italian family with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) carries the C9orf72 repeat expansion (RE). This suggests a potential oligogenic cause for ALS/FTD, possibly involving genetic modifiers.

Keywords:

Amyotrophic lateral sclerosis C9orf72 gene FTDALS1 ITM2B familial ALS/FTD frontotemporal dementia

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Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Published on: March 17, 2012

Area of Science:

Neuroscience
Genetics
Neurology

Background:

The association between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) was first reported in a large Italian kindred in 1969.
This kindred exhibited an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and significant cognitive decline.

Purpose of the Study:

To further characterize the Italian family with FTD-ALS.
To investigate the genetic link of this family with the C9orf72 repeat expansion (RE).

Main Methods:

Medical records of thirteen patients from the original family were reviewed.
Genetic analyses were performed on four individuals from the family.
Neuropathological examination was conducted on one patient.

Main Results:

The C9orf72 RE was identified in three affected patients, but not in a healthy survivor.
One patient presented with a complex phenotype including movement disorders, psychiatric and cognitive features, deafness, and optic atrophy, alongside a novel potential pathogenic variant in the ITM2B gene.
Neuropathological findings in this patient did not align with typical ITM2B mutation-related dementias.

Conclusions:

The study confirms the presence of the C9orf72 RE in the Italian pedigree previously described with FTD/ALS.
The identification of an additional mutation in a dementia-associated gene suggests the role of genetic modifiers in disease complexity.
The findings support an oligogenic etiology for ALS/FTD, indicating that multiple genes may contribute to the disease.