Multiple sclerosis (MS) is a chronic inflammatory demyelinating and neurodegenerative disease of the central nervous system. MS can cause different patterns of motor disturbances and gait ...difficulties in all its main clinical phenotypes: relapsing–remitting (RRMS), secondary-progressive (SPMS) or primary-progressive MS (PPMS). We mesasured gait pattern and characteristics in 54 MS patients, 40 with RRMS and 14 with PPMS. In those two forms we compared effects of dual task paradigm on gait characteristics (motor or mental task performance during gait) and compared gait pattern parameters (gait cycle time, stride length, single and double limb support time, as well as their coefficients of variation). Gait cycle is generally considered as automatically generated rhythmic pattern. However, tasks performed during gait in MS are affecting gait parameters differently. Cycle time is longer and stride length is shorter in RR compared to PP form, while motor and mental tasks are affecting gait parameters of both MS forms in similar manner, increasing their coefficients of variation. Changes in gait parameters and characteristics in RRMS and PPMS forms might be the consequences of different internal and external interactions. Those differences could help to design and separate treatment strategies for different MS forms.
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. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.
