ReviewJournal of neurology2004
A pathogenetic classification of hereditary ataxias: is the time ripe?
Review in Journal of neurology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed.
- Article
- Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.European journal of neurology · 2013Article
- Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.American journal of human genetics · 2013Article
- The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2012Article
- A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery.PLoS genetics · 2012Article
- Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.Journal of neurology · 2011Article
- The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.Journal of neurology · 2010Article
- Autosomal recessive cerebellar ataxias.Orphanet journal of rare diseases · 2006Review
- An overview of the patient with ataxia.Journal of neurology · 2005Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Harding's classification takes credits for defining the homogeneous phenotypes that have been essential for the genetic linkage studies and it is still useful for didactic purposes. The advances in pathogenetic knowledge make it now possible to modify Harding's classification. Five main pathogenetic mechanisms may be distinguished: 1) mitochondrial; 2) metabolic; 3) defective DNA repair; 4) abnormal protein folding and degradation; 5) channelopathies. The present attempt to classify ataxia disorders according to their pathogenetic mechanism is a work in progress, since the pathogenesis of several disorders is still unknown. A pathogenetic classification may be useful in clinical practice and when new therapeutic strategies become available.
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Registered trials
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