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Prevalence (%) of clinical parameters based on data from 1 references describing 15 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 % | 21465257 | 2011-10-19 | |
| Dysarthria | nervous | 100 % | 21465257 | 2011-10-01 | |
| Nystagmus | nervous | 100 % | 21465257 | 2011-10-01 | |
| Areflexia | nervous | 100 % | 21465257 | 2011-10-01 | |
| Neuropathy | nervous | 100 % | 21465257 | 2011-10-01 | |
| Oculomotor apraxia | nervous | 93 % | 21465257 | 2011-10-27 | |
| Muscle weakness | skeletal | 85 % | 21465257 | 2011-10-01 | |
| Chorea | nervous | 75 % | 21465257 | 2011-10-01 | |
| Hypercholesterolemia | digestive | 69 % | 21465257 | 2011-10-01 | |
| Hypoalbuminemia | digestive | 58 % | 21465257 | 2011-10-01 | |
| Mental retardation | nervous | 40 % | 21465257 | 2011-10-01 | |
| Babinski's sign | nervous | 23 % | 21465257 | 2011-11-16 |
List of references:
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Barbara Castellotti, Caterina Mariotti, Marco Rimoldi, Roberto Fancellu, Massimo Plumari, Sara Caimi, Graziella Uziel, Nardo Nardocci, Isabella Moroni, Giovanna Zorzi, Davide Pareyson, Daniela Di Bella, Stefano Di Donato, Franco Taroni, Cinzia Gellera,
Neurogenetics - Aug 2011