Name of Principal Investigator
| Title |
MD, PhD |
| First name |
Jorge |
| Last name |
Sequeiros |
Address of institution where award is held
| Institution |
CGPP and UnIGENe |
| Street Address |
Rua do Campo Alegre, 823 |
| City |
Porto |
| Postcode |
4150-180 |
1. Conditions included, or expected to be included, in the disease register
Alzheimer’s disease and other dementias
Motor neurone diseases
Parkinson’s disease
Huntington’s disease
Spinocerebellar ataxia (SCA)
Neurodegenerative disease in general
2a. Stated aim of the cohort
Molecular diagnosis and genetic counseling of neurodegenerative disorders in a national reference center and to foster research
2b. Features distinguishing this register from other disease registers
Excellent clinical information from expert neurologists, connected to pedigree data and long-lasting knowledge on Portuguese families with neurodegenerative disorders. (2) Being a national reference diagnostic centre for these disorders, situated in a research institute.
3a. i) Number of publications that involve use of register to date
3a. ii) Up to three examples of studies to date (PI, Institution, Title of Study)
| 1. Name of PI |
PI: Isabel Alonso, IBMC, Mutational spectrum and improvement in laboratory techniques applied to molecular diagnosis of neurological disorders
PI: Isabel Silveira, IBMC, Clinical Implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction
PI: Paula Coutinho, IBMC, Survey of hereditary ataxias and spastic paraplegias in Portugal |
4a. Study criteria: age range of participants
| Age in years from: |
Any age |
4b. Study criteria: inclusion criteria
Suffering or having a family history of a neurodegenerative disorder with or without a molecular genetics diagnosis.
4c. Study criteria: exclusion criteria
5. Size of the register (i.e. number of patients enrolled)
More than 10,000 clinical cases
6a. Measures used to characterise participants
Personal, clinical and family data.
6b. Are there defined primary and secondary endpoints (e.g. defined health parameters)
No
7a. i) Is the register of fixed duration
7a. ii) Data collection start date
7b. Stage of data collection/analysis for the register
Data collection ongoing
11. Limit on the number of studies that can be based on this set of patients
12a. Data stored in a database
| Yes/No |
% available |
| Y |
100 |
| N |
| Y Access database |
100 |
| Y |
100 |
12b. Data held as individual records
| Yes/No |
% available |
| Y |
100 |
| N |
| Y |
100 |
| Y |
13a. Are data available to other groups
13b. Access policy/mechanisms for access if data are available to other groups
Apply to PI or co-ordinator at resource
14. Data sharing policy specified as a condition of use
No policy exists
15a. Are tissues/samples/DNA available to other groups
15b. i) Description of available tissues/samples/DNA
Living donors: DNA
Post-mortem donors: brain
15b. ii) Form available tissues/samples/DNA are supplied in
Secondary samples: plasma
Secondary samples: DNA
Secondary samples: cell lines derived from primary samples
15b iii) Is the access policy/mechanism for obtaining samples the same as that for obtaining data
16a. Is information on biological characteristics available to other group
16b. Is the access policy/mechanism for obtaining details of the characteristics the same as that for obtaining other data
