Author/Editor     Butinar, Dušan; Zidar, Janez; Leonardis, Lea; Popović, Mara; Kalaydjieva, Luba; Angelicheva, Dora; Sininger, Yvonne; Keats, Bronya; Starr, Arnold
Title     Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred
Type     članek
Source     Ann Neurol
Vol. and No.     Letnik 46, št. 1
Publication year     1999
Volume     str. 36-44
Language     eng
Abstract     Members of a Roma (Gypsy) family with hereditary motor and sensory peripheral neuropathy (HMSN) and concomitant auditory and vestibular cranial neuropathies were identified in Kocevje, Slovenia. The illness begins in childhood with a severe and progressive motor disability and the deafness is delayed until the second decade. There are no symptoms of vestibular dysfunction. The family structure is consistent with an autosomal recessive pattern of inheritance and the genetic locus for the disorder is linked to the same region of chromosome 8q24 as other Roma families with HMSN and deafness from Lom, Bulgaria (HMSN-Lom). The present study shows that the deafness is caused by a neuropathy of the auditory nerve with preserved measures of cochlear outer hair cell function (otoacoustic emissions and cochlear microphonics) but absent neural components of auditory brainstem potentials. The hearing loss affects speech comprehension out of proportion to the pure tone loss. Vestibular testing showed absence of caloric responses. Physiologicol and neuropathological studies of peripheral nerves were compatible with the nerve disorder contemporaneoualy affecting Schwann cells and axons resulting in both slowed nerve conduction and axonal loss. Genetic linkage studies suggest a refinement of the 8q24 critical region containing the HMSN-Lom locus that affects peripheral motor and sensory nerves as well as the cranial auditory and vestibular nerves.
Descriptors     NEUROPATHIES, HEREDITARY MOTOR AND SENSORY
CHROMOSOMES, HUMAN, PAIR 8
ADULT
GENETIC MARKERS
GENOTYPE
PEDIGREE
EVOKED POTENTIALS, AUDITORY, BRAIN STEM
GYPSIES
SLOVENIA