Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72

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Abstract

Background: The hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum. Objective: To characterize the antemortem characteristics of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Design: Clinical series. Setting: Tertiary care academic medical center. Patients: The members of a family affected by the mutation with features of FTD and/or ALS. Main Outcome Measures: Clinical, neuropsychologic, and neuroimaging assessments. Results: All 3 examined subjects had the hexanucleotide expansion detected in C9ORF72. All had personality/behavioral changes early in the course of the disease. One case had levodopa-unresponsive parkinsonism, and 1 had ALS. Magnetic resonance imaging showed symmetric bilateral frontal, temporal, insular, and cingulate atrophy. Conclusions: This report highlights the clinical and neuroimaging characteristics of a family with c9FTD/ALS. Further studies are needed to better understand the phenotypical variability and the cliniconeuroimaging-neuropathologic correlations.

Original languageEnglish (US)
Pages (from-to)1164-1169
Number of pages6
JournalArchives of Neurology
Volume69
Issue number9
DOIs
StatePublished - Sep 2012

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Chromosomes, Human, Pair 9
Amyotrophic Lateral Sclerosis
Open Reading Frames
Neuroimaging
Parkinsonian Disorders
Mutation
Levodopa
Tertiary Healthcare
Atrophy
Personality
Magnetic Resonance Imaging
Outcome Assessment (Health Care)
Chromosome
Repeats
Genes
Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)

Cite this

@article{20c012989ba34e0fa07d1ba45044a204,
title = "Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72",
abstract = "Background: The hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum. Objective: To characterize the antemortem characteristics of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Design: Clinical series. Setting: Tertiary care academic medical center. Patients: The members of a family affected by the mutation with features of FTD and/or ALS. Main Outcome Measures: Clinical, neuropsychologic, and neuroimaging assessments. Results: All 3 examined subjects had the hexanucleotide expansion detected in C9ORF72. All had personality/behavioral changes early in the course of the disease. One case had levodopa-unresponsive parkinsonism, and 1 had ALS. Magnetic resonance imaging showed symmetric bilateral frontal, temporal, insular, and cingulate atrophy. Conclusions: This report highlights the clinical and neuroimaging characteristics of a family with c9FTD/ALS. Further studies are needed to better understand the phenotypical variability and the cliniconeuroimaging-neuropathologic correlations.",
author = "Rodolfo Savica and Anahita Adeli and Vemuri, {Prashanthi D} and Knopman, {David S} and Mariely DeJesus-Hernandez and Rademakers, {Rosa V} and Fields, {Julie A} and Whitwell, {Jennifer Lynn} and Jack, {Clifford R Jr.} and Val Lowe and Petersen, {Ronald Carl} and Boeve, {Bradley F}",
year = "2012",
month = "9",
doi = "10.1001/archneurol.2012.772",
language = "English (US)",
volume = "69",
pages = "1164--1169",
journal = "Archives of Neurology",
issn = "0003-9942",
publisher = "American Medical Association",
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TY - JOUR

T1 - Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72

AU - Savica, Rodolfo

AU - Adeli, Anahita

AU - Vemuri, Prashanthi D

AU - Knopman, David S

AU - DeJesus-Hernandez, Mariely

AU - Rademakers, Rosa V

AU - Fields, Julie A

AU - Whitwell, Jennifer Lynn

AU - Jack, Clifford R Jr.

AU - Lowe, Val

AU - Petersen, Ronald Carl

AU - Boeve, Bradley F

PY - 2012/9

Y1 - 2012/9

N2 - Background: The hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum. Objective: To characterize the antemortem characteristics of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Design: Clinical series. Setting: Tertiary care academic medical center. Patients: The members of a family affected by the mutation with features of FTD and/or ALS. Main Outcome Measures: Clinical, neuropsychologic, and neuroimaging assessments. Results: All 3 examined subjects had the hexanucleotide expansion detected in C9ORF72. All had personality/behavioral changes early in the course of the disease. One case had levodopa-unresponsive parkinsonism, and 1 had ALS. Magnetic resonance imaging showed symmetric bilateral frontal, temporal, insular, and cingulate atrophy. Conclusions: This report highlights the clinical and neuroimaging characteristics of a family with c9FTD/ALS. Further studies are needed to better understand the phenotypical variability and the cliniconeuroimaging-neuropathologic correlations.

AB - Background: The hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum. Objective: To characterize the antemortem characteristics of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Design: Clinical series. Setting: Tertiary care academic medical center. Patients: The members of a family affected by the mutation with features of FTD and/or ALS. Main Outcome Measures: Clinical, neuropsychologic, and neuroimaging assessments. Results: All 3 examined subjects had the hexanucleotide expansion detected in C9ORF72. All had personality/behavioral changes early in the course of the disease. One case had levodopa-unresponsive parkinsonism, and 1 had ALS. Magnetic resonance imaging showed symmetric bilateral frontal, temporal, insular, and cingulate atrophy. Conclusions: This report highlights the clinical and neuroimaging characteristics of a family with c9FTD/ALS. Further studies are needed to better understand the phenotypical variability and the cliniconeuroimaging-neuropathologic correlations.

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