Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Dec 6, 2011

Keywords

ClinConnect Summary

All patients will be examined by a geneticist or a neuropediatric. All clinical data will be collected.

Strategy of the molecular study :

1. for all multiplex and consanguineous families a linkage analysis (loci ATCAY and ABC7 and others AC known genes) will be performed.
2. For all sporadic patients as well as linked multiplex and consanguineous families : sequencing of all coding exons of the gene ATCAY and others AC known genes.
3. For all sporadic male patients and linked families : sequencing of all coding exons of the gene ABC7.
4. For all patients with suggestive features : sequenc...

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• * Patient, child or adult, affected with a congenital or early-onset ataxia defined by:
• • Neurological symptoms observed before age of 2 years.
• • Non progressive cerebellar ataxia observed at the time of examination. Karyotype done or in progress
• Exclusion Criteria:
• • Metabolic disease
• • Specific MRI malformations suggesting a peculiar entity : molar tooth (joubert syndrome), superior vermis dysplasia with cleft (Oligophrenin)
• • Muscle weakness and elevated creatine phosphokinase (CPK)
• • Clearly progressive ataxia.
• • Absence of signature of the informed consent.
• • Absence of affiliation to social security