Hereditary motor and sensory neuropathy Lom type in a Serbian family.

Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones.

[Clinical characteristics of multiple system atrophy in serbian population].

Background/aim: Mulstiple system atrophy (MSA) is a neurodegenerative central nervous system disorder, characterized by any combination of extrapyramidal, cerebellar, pyramidal or autonomic disturbance. The aims of our study were to define clinical characteristics of MSA patients in our population, to account for neuroradiological and electrophysiological profile of the disease and to evaluate one-dose levodopa response.

Methods: We have diagnosed 29 patients as MSA, with disease duration from the first symptom 5 years on average on examination.

On the capability of the vestibular apparatus to perceive sound stimuli.

This paper discusses the capacity of sound perception in 5 profoundly deaf subjects in whom a "fenestra" was previously formated on the lateral semicircular canal. The ability of sound and vibration perception after fenestra formation in profoundly deaf subjects with normal function of the vestibular apparatus has been described previously. The experiments for this procedure were done on pigeons by Wit & Bleeker.

Perception of audio-frequency vibrations by profoundly deaf subjects after fenestration of the vestibular system.

A survey is given of the literature on the sensitivity of the vestibular system to audio-frequency sound and vibration in animals. It is also shown that responses to such stimuli can be evoked in man. On the basis of these results it was decided to perform a fenestration of the horizontal semicircular canal in three profoundly deaf volunteers, with normal sensitivity of the vestibular system.

Can size or type of the pontocerebellar tumor be predicted by an ABR finding?

ABR waveforms were analyzed in 63 subjects with tumors of the pontocerebellar angle. The tumors were diagnosed by CT scan and the diagnoses were surgically confirmed. According to the latency changing and amplitude size, the ABR waveforms were classified into seven types (0, A, B, C, D, E and F).