The top 15 Frequently asked questions (FAQs)


1) What is ALSoD?
2) What is SOD1 ALS?
3) Why was ALSoD set up?
4) Who are the members/contributors?
5) How do I contact the ALSoD team?
6) How do I access the database?
7) Are my subject records private?
8) Can anyone submit data to the ALSoD database?
9) How do I submit data?
10) What kind of data may I add / does ALSoD store?
11) Are my subject records private?
12) Should I wait for my paper to be published before I submit my data?
13) What comprises a subject record?
14) What does the ALSoD database contain?
15) How can I find out more about ALSoD?


1) What is ALSoD?

The ALSoD online database is designed to provide both the scientific community and wider public with up-to-date information on SOD1 associated ALS. Users can do searches and examine the reports. ALSoD allows: Acquisition of data on new SOD1 gene mutations Access to the existing information about SOD1 gene mutations Complete record of all genotype/phenotype and neutral variations Information on the availability of DNA, cell cultures, post-mortem and any other material Information about publications on SOD1 associated ALS. 

2) What is SOD1 ALS?

Our understanding of the possible molecular and cellular mechanisms underlying motor neuron degeneration in amyotrophic lateral sclerosis (ALS) has been transformed in the past few years, largely as a result of identification of the mutations in the gene encoding Cu/Zn superoxide dismutase (SOD1) in patients with familial form of ALS (Rosen et al, Nature 1993;362:59-62). By 1996 over 60 different mutations have been described in 43 of the 153 SOD1 residues. Pathological mutations have now been demonstrated in the exon 3 of SOD1 gene (Andersen et al, Brain 1997;120:1723-1737; Shaw et al, Ann Neurol 1998;43:390-394). The exact number of families carrying the SOD1 gene mutations is not known but is likely to be well above 250. The number of "apparently" sporadic ALS patients with SOD1 gene mutations has also risen steadily in the last year. Information on the genetic and clinical data of ALS patients with the SOD1 gene mutations is, however, only available for one third of all families and is incomplete in some of those families (Radunovic and Leigh, J Neurol Neurosurg Psychiatry 1996;61:565-572; Cudkowicz et al, Ann Neurol 1997;41:210-21; Juneja et al, Neurology 1997;48:55-57). There is limited information available in central databases such as OMIM and HGMD Cardiff.

3) Why was ALSoD set up?

The ALS scientific community has recognised an urgent need for collecting the genetic and clinical information on all SOD1 individuals and the ALSoD Consortium consisting of 26 groups was set up with the aim of pooling all available data into a uniform centralised database following the 8th ALS/MND Symposium held in Glasgow, UK in November 1997. The ALSoD database was endorsed by the HUGO Mutation Database Initiative at the HUGO Meeting in Turin, Italy , March 1998.

4) Who are the members/contributors?

Please click here to see the database contributors

5) How do I contact the ALSoD team?

Professor Ammar Al-Chalabi, Professor of Neurology and Complex Disease Genetics
or Olubunmi Abel Computer Scientist on 020878485244

6) How do I access the database?

The reports and search sections are open to the general public. Please click on the relevant links on the home page to view the data.

7) Can I submit new data to the database?

Members of the 'general' public may not submit data to the database. In order to submit new data you must:
a) belong to a registered institution
b) have a valid username and password

8) Can anyone submit data to the ALSoD database?


No. At the moment only members of institutions may contribute data. Data depositors are required to register.

9) How do I submit data?

You must be registered with us to submit data to ALSoD. If you have a username and password you can login and start submitting data straight away. If you do not have a username and password, you need to register.

10) What kind of data may I add / does ALSoD store?

We provide facilities for members to add what we call mutation data or subject/patient data. We store details of SOD1 genetic mutations. We can handle most types of mutations. You can view a list of mutations which have already been submitted. Subject data includes details about a patient's family details, clinical detail, neuropathology and other general information.

11) Are my subject records private?

Yes. Although some parts of the subject record are open to the scrutiny of the general public, the identity of a subject is never disclosed (in fact we do not even store names of patients). The public can only view 'summary' details of clinical records.

12) Should I wait for my paper to be published before I submit my data?

No.There is no good reason why you should only submit published data to the ALSoD database. The ALSoD database acts as a public record of ALS/SOD1 information; our hope is that users should submit their data here before publication as a much faster way of disseminating scientific knowledge.

13) What comprises a subject record?

The ALSoD database stores both clinical details of relevant patients and genetic mutation data. A subject record should contain at least the following (although in unaffected cases it is not necessary to complete the 'Disease onset details section').

Suggested items for minimal subject record
Subject details
Family id (private) [your reference]
Father id (private) [your reference]
Mother id (private) [your reference]
Family history [Yes / No]
Date of birth [dd / mm /yyyy]
Gender [Male / Female]
Country of origin .
Ethnicity .
Status [Affected / Possibly affected / Not affected]
Screened for SOD1? [Yes/No]
Mutation found? [Yes/No]
Mutation .
Zygosity .
Disease onset details
Alive [Yes / No]
Date of onset [dd / mm /yyyy]
Date of diagnosis [dd / mm /yyyy]
Date of death [dd / mm /yyyy]
Death diagnosis .
Site of onset [Bulbar / Legs / Arms]
Weight .
FVC .


14) What does the ALSoD database contain?

Mutations

HGMD Cardiff nomenclature for the location and type of the mutation is used. The information on the creation or loss of the restriction site and enzyme involved is also included. Both the long and short forms of the mutated amino acids are available (eg D90A or Asp90Ala).

Subject and family details

Details consist of subject's core details (subject ID, date of birth, sex, family ID, father ID, mother ID, country of origin, ethnic origin, status, alive, SOD1 screening, zygosity) and extended details if the subject is affected (age at onset, site of onset, weight at onset, vital capacity at onset, age at death, diagnosis at death).

Clinical details

Clinical details include presenting symptoms, presence of lower and upper motor neuron signs in cranial nerves, upper and lower limbs, thorax and trunk; MR imaging and EMG evidence of lower motor neuron involvement. Presence of any atypical neurological features such as symptoms and signs of sensory impairment, autonomic dysfunction, Parkinsonism and dementia or a non-neurological disease is also recorded.

Neuropathology

Abnormalities in motor cortex, corticospinal tracts and anterior horn cells as well as in posterior columns, spinocerebellar tracts, oculomotor nuclei, Onuf's nucleus and Clarke's column are noted. Presence of Bunina bodies, Lewy body inclusions, ubiquitin inclusions, vacuolation, neurofilament accumulation (intraneuronal and axonal) and SOD1 immunoreactivity in motor cortex and spinal cord is recorded.

SOD1 enzymatic activity

SOD1 enzymatic activity in RBC, lymphoblastoid cells, fibroblasts, brain and spinal cord (% of normal) and method used for the analysis are recorded.

Material availability

Information on availability of DNA, lymphoblastoid cells, fibroblasts, brain, spinal cord and any other material for sharing between groups is provided.


15) How can I find out more about ALSoD?

Check on the Media page http://alsod/videos/media.aspx

Please contact Professor Ammar Al-Chalabi for enquiries