Research on ataxia and paraplegias

Searching for a diagnostic tool

The present Project is relates to a large group of neurodegenerative rare diseases: hereditary ataxias and familial spastic paraplegias. Their diagnosis is really complex due to the overlap among the clinical forms and also, because of the genetic complexity: more than 200 genes are known. The goal of this project is the development of a diagnostic tool that allows the analysis of all the genes involved in these two groups of disorders in order to achieve a definitive and accurate diagnosis.

Thus, the patients will have a better assessment and an accurate treatment, which will provide a better quality of life: the number of visits to physicians and of clinical evaluations will be reduced. Moreover, with a clear diagnosis, it is possible to anticipate the disease progression. And additionally, it is possible to offer a genetic counseling to the patients and their relatives and, it is also possible to take preventive measures for a better family planning.

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What are ataxias and paraplegias?

The hereditary ataxias and familial spastic paraplegias are a large group of neurodegenerative rare diseases that affect the central nervous system. They have an estimated prevalence of 20 patients per 100,000 inhabitants.

The familial spastic paraplegia

The main clinical manifestations are spastic paraplegia of the lower limbs; progressive muscle weakness and spasticity of the lower extremities; loss of muscle mass in hands and feet, paraplegia, contractures in lower limbs; and difficulty of speaking. Complex forms exhibit besides, additional clinical signs such as ataxia.

Diagnosis: Patients who present with a mixed clinical picture of cerebellar ataxia and spastic paraplegia suppose an important challenge in differential diagnosis due to the overlapping phenotype. And moreover, the relevant number of involved genes: more than 80 genes are associated with spastic paraplegia. Three genes, SPG4/SPAST, SPG3A/Atlastin and SPG21/REEP1, are the most frequent one, which solve around 50% of cases. For this reason, the remaining genes are not usually analyzed and hence, the number of unsolved cases with familial spastic paraplegia is high.

Investigación en ataxia y paraparesia - Ataxias y paraparesias

The hereditary cerebellar ataxia

This is a group of neurodegenerative disorders that show ataxia as a common symptom: loss of balance and coordination that can affect lower limbs, hands, arms, fingers and trunk. Moreover, the clinical picture can include additional signs such as alterations of the eye movements, swallowing and speaking difficulties, etc.

Diagnosis: In the vast majority of cases, due to the clinical overlap, the diagnosis could result very difficult. The most common types are the Friedreich’s ataxia, the spinocerebellar ataxias (SCAs), and several mitochondrial disorders. More than 60 genes are associated with cerebellar ataxias. However, most of cases are sporadic ones, which make more difficult the molecular diagnosis.


What is the goal of this research project?

The diagnosis of patients who suffer from hereditary ataxias and familial spastic paraplegias is complicated because these disorders display a similar phenotype. An average of five years is needed to achieve a diagnosis. More than 200 genes are known to be involved in these groups of disorders and the National System of Health do not offer the genetic analysis of these rare diseases.

The main goal of this project is to give an answer to these patients with the development of a tool that allows the analysis of all these genes in order to achieve a definite and accurate diagnosis, which will lead to a patient-focused care and therefore, a more appropriate therapy. In addition, genetic counselling will be possible for the patient and their relatives, which in turn it will allow taking preventive measures for a better family planning.

Help these people find their genetic diagnosis

Fund this project joining the Rare Diseases Category

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Photo Credit via: pixabay cc

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Help these people find their genetic diagnosis.

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Category:

Rare Diseases

Project’s Stage

  • Minimum target already reached 100%

Target:

Minimum: 16 people

REACHED!

8.000€ 

Next Target: 16 people more

5.000€

Optimum: 96 people

32.000€

Collected*: 8.098,60€

Day(s)

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Hour(s)

:

Minute(s)

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Second(s)

Deadline: 10/31/17

Average funding: 9’63€/month

509 people needed** to reach next target

Main Researcher:

Dra. Carmen Espinós

Dra. Carmen Espinós

* What is already collected from the IND. ** Number of people needed to reach the closest target (given current average funding).

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Help 16 more people find their genetic diagnosis.

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