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Prevalence (%) of clinical parameters based on data from 3 references describing 135 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Psychomotor regression | nervous | 100 % | 21855841 | 2015-01-09 | |
| Pyramidal signs | nervous | 100 % | 21855841 | 2015-01-09 | |
| Ataxia | nervous | 100 % | 21855841 | 2015-01-09 | |
| Leukodystrophy | nervous | 100 % | 24105487 | 2015-01-09 | |
| Hypomyelination | nervous | 95 % | 25339210 | 2015-01-09 | |
| Cerebellar atrophy | nervous | 92 % | 24105487 | 2015-01-09 | |
| Myopia | nervous | 87 % | 25339210 | 2015-01-09 | |
| Hypogonadism | endocrine | 81 % | 25339210 | 2015-01-09 | |
| Hypodontia | skeletal | 72 % | 25339210 | 2015-01-09 | |
| Wheelchair use | nervous | 63 % | 21855841 | 2015-01-09 | |
| Tremor | nervous | 58 % | 21855841 | 2015-01-09 | |
| Developmental delay | nervous | 52 % | 25339210 | 2015-01-09 | |
| Short stature | skeletal | 51 % | 25339210 | 2015-01-09 | |
| Developmental delay | nervous | 37 % | 21855841 | 2015-01-09 | |
| Dysphagia | nervous | 37 % | 21855841 | 2015-01-09 | |
| Hypogonadism | endocrine | 37 % | 21855841 | 2015-01-09 | |
| Hypersalivation | digestive | 32 % | 21855841 | 2015-01-09 | |
| Optic atrophy | nervous | 21 % | 21855841 | 2015-01-09 | |
| Seizures | nervous | 19 % | 25339210 | 2015-01-09 | |
| Seizures | nervous | 16 % | 21855841 | 2015-01-09 | |
| Nystagmus | nervous | 16 % | 21855841 | 2015-01-09 |
List of references:
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni Carosso, Isabelle Clément, Odile Boespflug-Tanguy, Diana Rodriguez, Valérie Delague, Joelle Abou Ghoch, Nadine Jalkh, Imen Dorboz, Sebastien Fribourg, Martin Teichmann, André Megarbane, Raphael Schiffmann, Adeline Vanderver, Bernard Brais,
American journal of human genetics - Sep 2011
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.
Roberta La Piana, Davide Tonduti, Heather Gordish Dressman, Johanna L Schmidt, Jonathan Murnick, Bernard Brais, Genevieve Bernard, Adeline Vanderver,
Journal of child neurology - Feb 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Nicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik Sistermans, Coriene Catsman-Berrevoets, Johan M Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S van der Knaap, Geneviève Bernard, ,
Neurology - Nov 2014