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Bulgarian Doctors Have Discovered a New Genetic Neurological Disease

At the 12th national meeting (16th  - 18th June , at Albena Summer Resort) under the motto "Genes, brain, intellect , behaviour," organized by MSFT Foundation (Media, Society, Family, Traditions), Prof. Ivaylo Tarnev , President of the Bulgarian Society of Neuromuscular Diseases, acquainted the journalists, attending the event, with a newly- discovered neurological genetic disease - autosomal recessive congenital ataxia. The discovery, which has fundamental for the world Neurogenetics contribution, was implemented by an international team of scientists, led by Prof. Tarnev and included specialists from Aleksandrovska Hospital - Sofia – Assoc. Prof. Gergelcheva, Prof. Cherninkova and Dr. Chamova, of the Western Australia University – Prof. Lyuba Kalaydzhieva and Dr. Azmanov, and from Medical University - Varna – Prof. Ara Kaprelyan.
The description of this new disease was made among patients from Varna and Dobrich District, as some of the research was conducted at “St. Marina” University Hospital - Varna. This disease is due to a mutation in the gene, encoding metabotropic glutamate receptor 1 (mGluR1), localized on 6q24 chromosome. It is essential for early postnatal development of the cerebellar cortex, for the synaptic plasticity in the cerebellum and hippocampus, for the processes of learning and memory. The receptor is also involved in the release of neurotransmitters and the neuroprotection. The glutamate receptor type 1 is located in Purkinje cells in the cerebellar cortex, basal ganglia, hippocampus, thalamus, hippothalamus, olfactory bulb analyzer and spinal cord.

The main symptoms of the disease are severely impaired coordination, delayed psychomotor development, pyramidal signs, eye motor symptoms, varying degrees of mental retardation. Such clinical phenotype is described in mutations in the same gene in mice and dogs. The incidence worldwide is about 7 per 100 000 people.
According to Prof. Kaprelyan, Head of the Department of Nervous Diseases at Medical University - Varna, the discovery of the defective gene makes possible the prenatal diagnosis and the genetic prevention in affected families.