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Spinocerebellar Ataxia, Familial Late-Onset Ataxia and Familial Episodic Ataxia

Investigators

Prof. Henry Houlden*, Principal Investigator

Prof. Nicholas Wood

Dr. Emer O’Connor

* Contact details:

Institute of Neurology, Queen Square, London, WC1N 3BG

Email address: h.houlden@ucl.ac.uk or e.oconnor@ucl.ac.uk

Tel: 0203 4484249

Case definition

1. Spinocerebellar ataxia, familial cerebellar or familial late-onset ataxia where acquired causes have been excluded and where there is a posiitve family history of ataxia in a relative or where the parents of the proband are cousins. Where there is a SCA expantion known or where the cause is unknown. 

2. Patients with the clinical characteristics of episodic ataxia where acquired causes have been excluded. 

3. We wish to identify patients and families with known and unknown genetic causes.

  

Research questions

Spinocerebellar Ataxia, Familial Late-Onset Ataxia and Familial Episodic Ataxia
 
Familial ataxia and episodic ataxia are rare neurological disorders spread widely throughout the UK. These diseases are clinicaly and genetically heterogeneous and there are no effective treatments. Although a large number of ataxia disease genes have been identified around 40% of patients remain genetically undefined and in patients with known genetic causes such as an expanded polyglutmine repeat there is significant age at onset variation. We would like to identify familial and likely familial ataxia and episodic ataxias in the UK accomplish three main objectives;
 
1. Describe the genetic variability, phenotype and epidemiology of ataxia and episodic ataxia patients in the UK.
2. Create the UK register of ataxia and episodic ataxia patients providing all the prerequisites for preparing future trials, namely national and global collaborative initiatives for jointly establishing natural history, outcome parameters, biomarkers and drug trials specific for ataxia and episodic ataxia.
3. Carry out further genetic and functional studies. These include the analysis of genetic modifiers of the age of onset in the spinocerebellar ataxia patients with expanded polyglutamine repeats.

 

Methods

1.Clinical assessment of the patients and collection of samples with ataxia and episodic ataxia.

Patient information ascertained from BSNU surveillance will be recorded on a secure patient database. Clinical details will be extracted from letters from referring consultants or patients and family members that are willing to be part of the study.  Suitable patients would be consented prior to providing a DNA sample. This would be in the form of whole blood in EDTA (purple top) tubes. In some cases, we may also require additional information and DNA blood samples from their family members.

 

2. Genetic sequencing of candidate genes.

We aim to sequence samples collected for mutations not currently performed by the service laboratories. In particular, we will examine ion channel genes, along with all other genes that may be candidates for hereditary and episodic ataxias. In patients where sequencing does not yield a genetic diagnosis, we may perform next-generation genomic DNA, RNA, methylation or protein sequencing. In all cases patient material will be kept anonymous. It is possible that our clinical, laboratory analysis may produce findings of clinical significance during the course of our investigation. In such cases the patient's neurologist would also be informed.

 

3. To establish a database of patients with ataxia and episodic ataxia.

Clinical details, investigation results and genetic results will be recorded on a single password protected database which will be stored on a sole secure computer in a secure office the Dept of Molecular Neuroscience. Data collated from previous similar research projects (REC 04QOS12/33) in this unit will be incorporated onto the database.  This will allow us to (i) recognise clinical patterns (ii) track progress of genetic sequencing. The database will be transferred to the secured UCL Data Safe Haven (IDHS) certified with ISO27001 information security standard and conforming to the NHS Information Governance Toolkit

 

Reporting Instructions

 We would require contributing neurologists to convey information about the study to suitable candidates. 

The patient can then consent to be be contacting by investigators who will provide them with more information about the study or copy a clinic letter, with the patients consent to us.

Contact: Dr. Emer O’Connor

Email : e.oconnor@ucl.ac.uk

Institute of Neurology, Queen Square, London, WC1N 3BG. Tel: 0203 4484249

Contact Us

Association of British Neurologists
Ormond House
27 Boswell Street
London
WC1N 3JZ

Telephone: +44 (0)20 7405 4060
Email: info@abn.org.uk

Registered Charity No. 1077893
Company No. 3816842

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