TY - JOUR
T1 - Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers
T2 - Confirmation of a new entity
AU - Sabatelli, M.
AU - Mignogna, T.
AU - Lippi, G.
AU - Servidei, S.
AU - Zollino, M.
AU - Padua, L.
AU - Lo Monaco, M.
AU - De Armas, L.
AU - Mereu, M. L.
AU - Tonali, P.
PY - 1998/1/23
Y1 - 1998/1/23
N2 - We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. We suggest that motorsensory neuropathy associated with deafness and mental retardation with absence of large myelinated fibers on sural nerve biopsy represents a distinct clinicopathological entity, which is transmitted in families probably as an autosomal recessive trait.
AB - We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. We suggest that motorsensory neuropathy associated with deafness and mental retardation with absence of large myelinated fibers on sural nerve biopsy represents a distinct clinicopathological entity, which is transmitted in families probably as an autosomal recessive trait.
KW - Hereditary motorsensory neuropathy
KW - Mental retardation
KW - Sensorineural deafness
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U2 - 10.1002/(SICI)1096-8628(19980123)75:3<309::AID-AJMG17>3.0.CO;2-T
DO - 10.1002/(SICI)1096-8628(19980123)75:3<309::AID-AJMG17>3.0.CO;2-T
M3 - Article
C2 - 9475604
AN - SCOPUS:0032559180
VL - 75
SP - 309
EP - 313
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -