The team at the Centre de rĂ©fĂ©rence pour la sclĂ©rose latĂ©rale amyotrophique et pour les maladies neuromusculaires rares âAOCâ (Reference Centre for Amyotrophic Lateral Sclerosis and Rare Neuromuscular Diseases) is reporting on the diversity of the main hereditary motor neurone diseases throughout their history.
- Many were described as early as the end of the 19th century, such as familial amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia in 1880, spinal muscular atrophy (SMA) in 1891, riboflavin transporter deficiency in 1892-93, Kennedy’s disease and neurogenic scapuloperoneal syndrome in 1897.
- Distal hereditary motor neuropathies (dHMN) and VCPopathy were described in 1962 and 1982 respectively.
- While only one gene is involved in spinal muscular atrophy and three in riboflavin transporter deficiencies, 41 are involved in familial forms of ALS, 43 in dHMN and more than 100 in hereditary spastic paraplegia.
- Diagrams summarise the diagnostic steps to be taken in the event of damage to the first and/or second motor neuron.
