Pathways to motor incoordination: the inherited ataxias

Taroni, Franco; DiDonato, Stefano

doi:10.1038/nrn1474

Cited by 186 publications

(151 citation statements)

References 141 publications

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“…It should be noted that lobule X has been shown to have a profound functional connection with the vestibular system that controls equilibrium, upright stance, and gait (37). Ataxic behaviors, such as loss of balance and coordination of voluntary movement, often with disturbances in posture and gait as observed in Smad2-CNS-KO mice, are characteristic of cerebellar dysfunction (38). However, abnormal behaviors are also compatible with defects in various other systems such as the proprioceptive and vestibular system (39).…”

Section: Discussionmentioning

confidence: 99%

Smad2 Protein Disruption in the Central Nervous System Leads to Aberrant Cerebellar Development and Early Postnatal Ataxia in Mice

Wang

Nomura

Goto

et al. 2011

Journal of Biological Chemistry

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Section: Discussionmentioning

confidence: 99%

Smad2 Protein Disruption in the Central Nervous System Leads to Aberrant Cerebellar Development and Early Postnatal Ataxia in Mice

Wang

Nomura

Goto

et al. 2011

Journal of Biological Chemistry

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“…This form of ataxia, a neurological dysfunction which severely impairs motor coordination, also causes cardiomyopathy and diabetes, with consequent reduction of life expectancy. FRDA is caused by a deficiency in frataxin, a mitochondrial targeted protein: in typical patients affected by FRDA, frataxin gene has undergone an enhanced triplet expansion (GAA) within first intron [4][5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

Knockout of frataxin gene causes embryo lethality in Arabidopsis

et al. 2007

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Frataxin is present in mitochondria of all eukaryotes as well as in the cytoplasm of bacteria. In humans, reduced expression of frataxin is associated with Friedreich's ataxia, a recessive inherited neurodegenerative and cardiac disorder leading to reduced life expectancy. Experimental evidences suggest that frataxin acts as an iron-chaperone protein, donating iron to the proteins involved in [Fe-S] cluster assembly and heme synthesis. It also possibly contributes to the process of iron detoxification and storage.The frataxin homolog from Arabidopsis thaliana (AtFH) is a single nuclear-encoded gene targeted to mitochondria and sharing 65% similarity with animal frataxin. In the present work, we show that the knocking out of AtFH gene causes arrest of Arabidopsis embryo development at the globular stage. Consistently with that, we also show by in situ hybridization that AtFH is expressed, in wt Arabidopsis plants, in ovule primordia as well as in embryos at various stages of development, suggesting a key role of plant frataxin during embryogenesis.

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“…They are characterized by a range of neurologic symptoms including loss of balance and motor coordination, caused by progressive dysfunction of the cerebellum and of its afferent and efferent connections. 1,2 The clinical diagnosis of specific subtypes is difficult because of the overlap of phenotypes among genetic subtypes, and the variability of clinical features found within distinct genetic subtypes. 1 SCAs are caused by expansion of CAG triplet repeats in the coding region of the disease gene, resulting in production of a mutant protein with an abnormally long polyglutamine stretch.…”

mentioning

confidence: 99%

“…1 SCAs are caused by expansion of CAG triplet repeats in the coding region of the disease gene, resulting in production of a mutant protein with an abnormally long polyglutamine stretch. 2,3 Since the discovery of the gene causing SCA1 in 1993, 27 loci for SCAs and the gene for dentatorubral and pallidoluysian atrophy (DRPLA) have been discovered. 4,5 Different genetic entities can share common pathologic features in SCA1 and SCA2, including severe loss of Purkinje cells and neurons in the pontine and inferior olivary nuclei.…”

mentioning

confidence: 99%