Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

Koeppen, Arnulf H.

doi:10.1016/j.jns.2011.01.010

Cited by 452Genetic Neurodegenerative DiseasesHereditary Neurological DisordersNeurological diseases and metabolism

Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics

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Koeppen, Arnulf H.·2011·Journal of the Neurological Sciences

DOI 10.1016/j.jns.2011.01.010PMC PMC3062632

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Abstract

The pathogenic mutation in Friedreich's ataxia (FRDA) is a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene. Deficiency of frataxin, a small mitochondrial protein, is responsible for all clinical and morphological manifestations of FRDA. This autosomal recessive disease affects central and peripheral nervous systems, heart, skeleton, and endocrine pancreas. Long expansions lead to early onset, severe clinical illness, and death in young adult life. Patients with short expansions have a later onset and a more benign course. Some are not diagnosed during life. The neurological phenotype reflects lesions in dorsal root ganglia (DRG), sensory peripheral nerves, corticospinal tracts, and dentate nuclei (DN). Most patients succumb to cardiomyopathy, and many become diabetic during the course of their disease. This review seeks to reconcile the diverse clinical features with pathological and molecular data. In the pathogenesis of the lesion in DRG, dorsal spinal roots, and sensory peripheral nerves, developmental defects and atrophy occur in combination. The progressive lesion of the DN lacks a known developmental component. Destruction of the DN, optic atrophy, and degeneration of the corticospinal tracts are intrinsic central nervous system lesions. Fiber loss in dorsal columns and spinocerebellar tracts, and atrophy of the neurons in the dorsal nuclei of Clarke are secondary to the lesion in DRG. The role of frataxin deficiency in the pathogenesis of FRDA is still unclear because the protein has multiple functions in the normal state, including biogenesis of iron-sulfur clusters; iron chaperoning; iron storage; and control of iron-mediated oxidative tissue damage.

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Decreased expression of frataxin increases the Fenton reaction due to excess free iron.
“Decreased expression of frataxin also increases the Fenton reaction due to excess free iron (17, 220).”
From Redox regulation of mitochondrial function (2012) · cites this paper as [220]
Hypoxia-induced suppression of Fe-S protein activity can be contrasted with the suppression of Fe-S protein activity found in Friedreich's ataxia, a hereditary neurodegenerative disease resulting from decreased production or function of frataxin.
“In addition, the hypoxia-induced suppression of Fe-S protein activity can be contrasted with the suppression of Fe-S protein activity found in Friedreich's ataxia, a hereditary neurogenerative disease that results from decreased production/function of the frataxin protein (17, 220).”
From Redox regulation of mitochondrial function (2012) · cites this paper as [220]
Histological studies and MRI suggest that in human brains the highest iron accumulation occurs in the dentate nuclei of the cerebellum in Friedreich's ataxia.
“Histological studies and MRI suggest that in human brains the highest iron accumulation occurs in the dentate nuclei of the cerebellum.166,167”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [167]

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Untitled work
Waldvogel (1999) · doi:10.1002/1531-8249(199907)46:1

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[62]Vassilopoulos D Spengos M Scarpalezos S Étude radiologique de la colonne vertébrale cervicale dans certaines maladies dégéneratives neurologiques J Radiol Électrol Méd Nucl 1977 58 183 6 857012

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Authors: Koeppen, A. H.
Affiliations: Albany Stratton VA Medical Center Albany (US)
Corresponding author: Koeppen, Arnulf H.
Venue: Journal of the Neurological Sciences
Publisher: Elsevier BV
Published: 2011-04
Volume: 303
Issue: 1-2
Pages: 1-12
ISSN: 0022-510X (ISSN-L)
DOI: 10.1016/j.jns.2011.01.010
PMC: PMC3062632
OpenAlex: W1985093325
Cited by: 447
References: 87
Citations by year: 2026: 21 · 2025: 31 · 2024: 36 · 2023: 34 · 2022: 18 · 2021: 22 · 2020: 25 · 2019: 27 · 2018: 21 · 2017: 27 · 2016: 30 · 2015: 30 · 2014: 38 · 2013: 52 · 2012: 28
FWCI: 3.75
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Journal of the Neurological Sciences (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: Friedreich's Ataxia Research Alliance
National Ataxia Foundation
National Institutes of Health
Neurochemical Research, Inc.
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Keywords: Friedreich's ataxia, GAA trinucleotide repeat expansion, frataxin deficiency, frataxin gene, iron chaperone, dorsal root ganglia, sensory neuropathy, dentate nucleus, corticospinal tract degeneration, cardiomyopathy, diabetes mellitus, autosomal recessive disorder, pathogenesis, clinical phenotype
MeSH terms: Frataxin, Adolescent, Adult, Aged, Animals, Child, Child, Preschool, Disease Models, Animal, Female, Friedreich Ataxia, Humans, Infant, Male, Middle Aged, Spinal Cord, Age of Onset, Iron-Binding Proteins, History, 19th Century, History, 20th Century, History, 21st Century, Mice, Young Adult

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