Hereditary Motor and Sensory Neuropathy Type 2, HMSN2, CMT2B1 (axonal) - LMNA

Klinische Symptomatik

The age of onset for Charcot-Marie-Tooth Neuropathy CMT2B1 is in a patient's teens. The first observation of this axonal neuropathy was in Morocco. Distal weakness, muscle atrophy and areflexia of the lower limbs, as well as a pes cavus are typical signs. Nerve conduction velocity is normal to slightly reduced.

Genetik

CMT2B1 is caused by mutations in the LMNA gene and follow an autosomal recessive pattern of inheritance. The LMNA gene itself is located on chromosom 1q22. LMNA is a structural protein of the nuclear membrane. Only one missense mutation (p.R298C) has been associated with this axonal neuropathy.

Häufigkeit

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Diagnostik