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Current Neurology and Neuroscience Reports

Erschienen in:

01.12.2019 | Neurology of Systemic Diseases (J Biller, Section Editor)

Neurological Manifestations of Achondroplasia

verfasst von: John B. Bodensteiner

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 12/2019

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Abstract

Purpose of review

This review is to delineate the neurological complications seen in patients with achondroplasia.

Recent findings

As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified.

Summary

Achondroplasia is a hereditary short-limbed dwarfism which has been known for millennia. The genetic defect is a gain of function sequence variation in the fibroblast growth factor receptor 3 (FGFR3). This gene normally regulates (inhibits) bone growth thus the gain of function results in abnormal or excessive inhibition of growth. The resulting bone is subject to distortion and the result is that bone impinges on nervous tissue, most commonly at the foramen magnum, spinal canal, and nerve root outlet foramen. Awareness of the range of these complications will, hopefully, allow early and more effective intervention so as to ameliorate the nature and severity of the long-term effects of the neurological complications in patients with achondroplasia.

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Titel: Neurological Manifestations of Achondroplasia
verfasst von: John B. Bodensteiner
Publikationsdatum: 01.12.2019
Verlag: Springer US
Erschienen in: Current Neurology and Neuroscience Reports / Ausgabe 12/2019
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-019-1008-x

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Abstract

Purpose of review

Recent findings

Summary

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