Neurodegeneration with Ataxia Dystonia and Gaze Palsy Childhood-Onset
NADGP

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Prevalence (%) of clinical parameters based on data from 1 references describing 9 individuals







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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%)
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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 - 09 2016