Jules Sottas (1866-1945) forgotten despite the eponym: "Dejerine-Sottas syndrome".

The eponym "Dejerine Sottas" makes 21st-century neurologists think of a form of heredity peripheral neuropathy leading to amyotrophy and secondary to a mutation of one of the many genes responsible for the formation of myelin. The seminal description was the work of Sottas and Jules Dejerine (1849-1917); Dejerine was the prestigious second successor of Jean-Martin Charcot at the Clinic of Nervous System Diseases at the La Salpêtrière hospital. Jules Sottas (1866-1945) has almost been forgotten, but as a young man he was a brilliant resident under Dejerine. However, Sottas eventually gave up medicine, even though he could have had a successful career as a neurologist, to devote himself to his passion for history, especially the history of navigation. But during his time as a physician he published several original works, always supported by detailed neuro-pathological studies, the result of his very close collaboration with Dejerine at Bicêtre then at La Salpêtrière. After a brief biography of Sottas, we will analyse his neurological work and then highlight the quality of his publications on naval and maritime history, which are still relevant today.

[History of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P)].

We established a new disease autosomal dominant hereditary motor and sensory neuropathy with proximal dominant involvement (HMSNP) in 1997, in Okinawa, Japan. This disease is characterized by proximal dominant neurogenic atrophy with fasciculations, painful muscle cramp, obvious sensory nerve involvement, areflexia, high incidence of elevated creatine kinase levels, hyperlipidemia and hyperglycemia. (MIM %604484). HMSNP is so called or HMSNO (HMSN OKINAWA type),. These clinical features resembled those of Kennedy-Alter-Sung syndrome. Most HMSNP patients have severe muscle atrophy and finally the tracheostomy and artificial ventilation are required. Therefore, we initially thought to classify HMSNP into a subtype of motor neuron disease (MND) like familial amyotrophic lateral sclerosis (FALS) or spinal muscular atrophy (SMA). However, the general consensus for MND was no sensory involvement. Therefore, as the disease showed severe sensory involvement, we categorized HMSNP in subtype of HMSN at that time. We also reported the pathology of HMSNP, showing severely decreased anterior horn cells, decreased posterior horn cells, and loss of posterior funiculus in the spinal cord.

Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.

In 1947, the Dutch neurologist De Jong published the first family with, what later would be called, hereditary neuropathy with liability to pressure palsies (HNPP). We recently found a new case from this family and were able to confirm the diagnosis by DNA analysis.

Experimental therapeutics in hereditary neuropathies: the past, the present, and the future.

Hereditary neuropathies represent approximately 40% of undiagnosed neuropathies in a tertiary clinic setting. The Charcot-Marie-Tooth neuropathies (CMT) are the most common. Mutations in more than 40 genes have been identified to date in CMT. Approximately 50% of CMT cases are accounted for by CMT type 1A, due to a duplication within the peripheral myelin protein 22 gene (PMP22). Mutations in the gap junction beta 1 gene (GJB1), the myelin protein zero gene (MPZ), and the mitofusin 2 gene (MFN2) account for a substantial proportion of other genetically definable CMT. Some 15% of demyelinating CMT and 70% of axonal CMT await genetic clarification. Other hereditary neuropathies include the hereditary sensory and autonomic neuropathies, the familial amyloid polyneuropathies, and multisystem disorders (e.g., lipid storage diseases and inherited ataxias) that have peripheral neuropathy as a major or minor component. This review surveys the challenges of developing effective therapies for hereditary neuropathies in terms of past, present, and future experimental therapeutics in CMT.