1: Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1977-1980.

[Article in Norwegian]

Tallaksen CM.

Nevrologisk avdeling Ullevål universitetssykehus 0407 Oslo og Det medisinske fakultet Universitetet i Oslo. chantal.tallaksen@...

BACKGROUND: Hereditary ataxias constitute a heterogeneous group of rare neurodegenerative diseases with an increasingly unsteady gait as the most common symptom. The three main groups: hereditary, sporadic and acquired ataxias, are difficult to distinguish from one another clinically. This overview will focus mainly on hereditary ataxias. MATERIAL AND METHODS: The article is based on own research, clinical experience and literature retrieved from searches in the MedLine and Cochrane databases. RESULTS: Autosomal dominant cerebellar ataxias constitute the largest group and includes spinocerebellar ataxias (SCA 1 - 29), dentatorubral- pallidolyisian atrophy (DRPLA) and episodic ataxias (EA 1 - 6). Diagnosis is based on family history, clinical findings and can be confirmed with molecular tests for 50 - 60 % of cases. Autosomal recessive ataxias usually start in childhood and consist of a group of heterogenous conditions of which Friedreich's ataxia and ataxia teleangiectasia are the most frequent types. Several metabolic and mitochondrial diseases are included in the group, but are not covered by this review. Curative treatment is usually not available for these diseases, but use of appropriate symptomatic drugs and physiotherapy may contribute to substantial improvement of the patient's symptoms and prognosis. INTERPRETATION: These conditions are rare, the prevalence is about 6/100 000 and they represent a diagnostic challenge. There is much ongoing research in the field with new possibilities for diagnosis and treatment. (For that reason it is important to be able to identify relevant patients and inform them properly) It is therefore important to identify the patients and give them the relevant information.

PMID: 18787576 [PubMed - as supplied by publisher]


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2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.



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