John B Bodensteiner1,2,3. 1. Neurology and Pediatrics, Mayo Clinic School of Medicine, Rochester, USA. dbbodens@cox.net. 2. Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA. dbbodens@cox.net. 3. , Scottsdale, USA. dbbodens@cox.net.
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. 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.
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. 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.
Authors: Ravi Savarirayan; Penny Ireland; Melita Irving; Dominic Thompson; Inês Alves; Wagner A R Baratela; James Betts; Michael B Bober; Silvio Boero; Jenna Briddell; Jeffrey Campbell; Philippe M Campeau; Patricia Carl-Innig; Moira S Cheung; Martyn Cobourne; Valérie Cormier-Daire; Muriel Deladure-Molla; Mariana Del Pino; Heather Elphick; Virginia Fano; Brigitte Fauroux; Jonathan Gibbins; Mari L Groves; Lars Hagenäs; Therese Hannon; Julie Hoover-Fong; Morrys Kaisermann; Antonio Leiva-Gea; Juan Llerena; William Mackenzie; Kenneth Martin; Fabio Mazzoleni; Sharon McDonnell; Maria Costanza Meazzini; Josef Milerad; Klaus Mohnike; Geert R Mortier; Amaka Offiah; Keiichi Ozono; John A Phillips; Steven Powell; Yosha Prasad; Cathleen Raggio; Pablo Rosselli; Judith Rossiter; Angelo Selicorni; Marco Sessa; Mary Theroux; Matthew Thomas; Laura Trespedi; David Tunkel; Colin Wallis; Michael Wright; Natsuo Yasui; Svein Otto Fredwall Journal: Nat Rev Endocrinol Date: 2021-11-26 Impact factor: 47.564
Authors: Svein O Fredwall; Unni Steen; Olga de Vries; Cecilie F Rustad; Heidi Beate Eggesbø; Harald Weedon-Fekjær; Ingeborg B Lidal; Ravi Savarirayan; Grethe Månum Journal: Orphanet J Rare Dis Date: 2020-05-25 Impact factor: 4.123