Neuropathy, Hereditary Thermosensitive

Clinical Features

Magy et al. (1997) described a French family in which 8 living members and 4 deceased members in 4 generations, in an autosomal dominant pedigree pattern, had a hereditary neuropathy with probable thermosensitivity. Patients presented with reversible episodes of ascending muscle weakness, paresthesias, and areflexia apparently triggered by an elevation of body temperature over 38.5 degrees C. Mean age at onset was 13 +/- 12 years (SD; range, 6 to 43). Four patients had suffered up to 5 attacks. EMG and pathologic findings were compatible with a reversible demyelinating neuropathy such as Guillain-Barre syndrome (139393).

Rutkove (1998) suggested that it would be interesting to perform nerve conduction studies on the patients described by Magy et al. (1997) using experimentally induced high temperatures during times of remission, to better determine whether the nerves are prone to heat-induced conduction block. Rutkove (1998) reported that a patient with CMT1A (118220) did not develop conduction block at experimentally induced high temperatures, suggesting that CMT1A and hereditary thermosensitive neuropathy are distinct disorders. Fontaine (1998) replied that although their group acknowledged the usefulness of nerve conduction studies with experimentally induced high temperatures, such experiments were not performed for ethical reasons.

Mapping

By linkage studies, Magy et al. (1997) excluded loci causing other hereditary demyelinating neuropathies, specifically Charcot-Marie-Tooth disease type I (see 118220) and hereditary neuropathy with liability to pressure palsies (162500).