Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository

Patients seen in the neurogenetics clinic with a clinical phenotype or a pedigree supportive of a genetic disease will be considered for the study. Autosomal recessive inheritance will be suggested by at least two affected sibs with healthy parents who may also have other unaffected children. Autosomal dominant inheritance will be suggested by multiple affected family members in multiple generations. Lack of family history could be suggestive of autosomal recessive inheritance or de novo autosomal dominant inheritance.

Informed consent will be completed prior to any research procedures or genetic testing. Patients seen in the neurogenetics clinic will be approached about participating in the Neurogenetics study during their routine clinic visit. Parents of pediatric patients seen in the clinic will be asked to provide their written informed consent. Following informed consent, deidentified patient information will be entered in a database by a study team member. If participation in the biorepository is also approved, then available stored specimens will be deidentified and located in the specific laboratories or in a collaborators laboratory

In the case of a known Neurogenetics patient who has died, the Legally Authorized Representative (or next of kin) of a deceased patient may be approached to provide permission for research data and stored specimens to be included in this study. Again, their protected health information (including any samples that were clinically obtained from biopsies or at autopsy) will be secured and de-identified for their participation.

Immediate family members will be studied (affected individual, affected and unaffected siblings and parents) with the goal of studying at least a family in trio (mother, father, affected child). In some cases, the family may have a deceased individual with banked DNA available. If the family is interested in including these samples, written consent will be obtained from the decedent's next-of-kin or the executors of the decedent' estate.

Family history suggestive of genetic disease which is undiagnosed with the available diagnosis methods will be considered for the study after having an extensive genetic evaluation. Affected individuals beside their affected and unaffected siblings and both their parents will be considered for the study.