Avtor/Urednik		Leonardis, L; Zidar, J; Popović, M; Timmerman, V; Loefgren, A; van Broeckhoven, C; Butinar, D
Naslov		Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family
Tip		članek
Vir		Pflugers Arch
Vol. in št.		Letnik 439, št. 3 Suppl
Leto izdaje		2000
Obseg		str. R208-10
Jezik		eng
Abstrakt		In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditarv motor and sensory neuropathy - Lom (HMSNL). were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. AD sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17p1.2-12 or point mutations in the Protein zero. Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q24 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditarv disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations.
Deskriptorji		NEUROPATHIES, HEREDITARY MOTOR AND SENSORY NEURAL CONDUCTION SURAL NERVE RECEPTORS, NERVE GROWTH FACTOR POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL MYELIN P0 PROTEIN MYELIN PROTEINS CONNEXINS GYPSIES PEDIGREE