Neurodegeneration with Ataxia Dystonia and Gaze Palsy Childhood-Onset |
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Prevalence (%) of clinical parameters based on data from 1 references describing 9 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 |
| Ataxia | nervous | 100 % | 27545679 | 2019-12-10 | |
| Dysarthria | nervous | 100 % | 27545679 | 2019-12-10 | |
| Mental retardation | nervous | 89 % | 27545679 | 2019-12-10 | |
| Dystonia | nervous | 78 % | 27545679 | 2019-12-10 | |
| Vertical gaze palsy | nervous | 78 % | 27545679 | 2019-12-10 | |
| Cerebellar atrophy | nervous | 50 % | 27545679 | 2019-12-10 | |
| Brain iron accumulation | nervous | 25 % | 27545679 | 2019-12-10 |
List of references:
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Tobias B Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A Kurian, Susan A Hayflick, Paola Venco, Valeria Tiranti, Tim M Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J Carroll, Thomas Klopstock,
American journal of human genetics - Sep 2016