Neurogenetic diseases for which the Neurogenetics Unit of the First Department of Neurology provides genetic diagnosis.
HEREDITARY NEUROPATHIES (Charcot-Marie-Tooth DISEASE, CMT)
Charcot-Marie-Tooth diesease (CMT) is a genetic disorder affecting peripheral nerves. Malfunction of peripheral nerves causes weakness, muscular atrophy, and numbness in the limbs. The Neurogenetics Unit provides molecular diagnosis for the commonest forms of the disease.
HUNTINGTON’S DISEASE
Huntington’s disease is a hereditary disorder that affects the brain. Patients usually develop chorea, neuropsychiatric symptoms and dementia, in a progressive fashion. The Neurogenetics Unit provides molecular diagnosis for the disease.
MYOTONIC DYSTROPHY
Myotonic dystrophy is a hereditary disorder primarily affecting muscles, but also involving other organs, such as the heart. The Neurogenetics Unit provides molecular diagnosis for the disease.
FRIEDREICH’S ATAXIA
Friedreich’s ataxia is a genetic disorder affecting the brain and spinal cord. Predominant symptoms are due to degeneration of the cerebellum and the dorsal columns of the spinal cord. The Neurogenetics Unit provides molecular diagnosis for the disease.
AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS (SCA)
Autosomal dominant cerebellar ataxias are hereditary disorders also known as spinocerebellar ataxias (SCA). They include over 30 diseases, but the most common are SCA 1, 2, 3, 6 and 7. They affect the brain and spinal cord. Predominant symptoms are due to progressive cerebellar degeneration. The Neurogenetics Unit provides molecular diagnosis for the most common SCA.
HEREDITARY SPASTIC PARAPLEGIA (HSP)
Hereditary spastic paraplegia is a genetic disorder primarily affecting the motor tracts of the spinal cord. The term “hereditary spastic paraplegia” includes over 50 different diseases. The predominant symptom is progressive spastic paraparesis. The Neurogenetics Unit provides molecular diagnosis for HSP on a research basis.
SPINAL AND BULBAR MUSCULAR ATROPHY or Kennedy’S DISEASE (SBMA, KAS)
Spinal and bulbar muscular atrophy or Kennedy’s disease is a hereditary disorder caused by degeneration of lower motor neurons. Predominant symptoms are progressive weakness and atrophy of the limbs and tongue, dysarthria and dysphagia. The Neurogenetics Unit provides molecular diagnosis for the disease.
FAMILIAL AMYLOID POLYNEUROPATHY (FAP)
Familial amyloid polyneuropathy (FAP) is a rare, progressive hereditary disorder initially affecting peripheral nerves, but later also involving other organs, such as the heart, kidneys and digestive tract. It is caused by abnormal deposition of amyloid in the tissues. The Neurogenetics Unit provides molecular diagnosis for the commonest form of the disease caused by mutations in the gene encoding transthyretin.