Professional paper

Genetic Determination of Motor Neuron Disease and Neuropathy

Pavle Vrebalov Cindro ; University of Split, School of Medicine, Split, Croatia
Veselin Vrebalov Cindro ; University of Split, School of Medicine, Split, Croatia

Abstract

Following the completion of the Human Genome Project, a lot of progress has been made in understanding the genetic
basis of motor neuron diseases (MNDs) and neuropathies. Spinal Muscular Atrophies (SMA) are caused by mutations
in the SMN1 gene localized on Chromosome 5q11. Amyotrophic Lateral Sclerosis (ALS) has been found to have at least
18 different types, many of them associated to different genetic loci (e.g. SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP
and others), but many of the forms have still not been associated with a particular gene. Sensomotoric hereditary neuropathies
(Charcot-Marie-Tooth) are a large heterogeneous group of various hereditary neuropathies, which have also
been associated with a wide spectrum of genetic mutations, such as PMP22, LITAF, EGR2, P0 protein, KIF1B, MFN2,
RAB7 and others. It is also apparent that more genes are being implicated, mutations discovered, and phenotypes recognised
and broadened. Therefore, a lot of continuing, additional research effort will be required in the coming years to illuminate
pathogenic mechanisms that underlie motor neuron diseases and neuropathies and that could lead to new and
improved treatments.

Keywords

Human Genome Project; motor neuron diseases; spinal muscular atrophies; amyotrophic lateral sclerosis; Charcot-Marie-Tooth disease

Hrčak ID:

147805

URI

https://hrcak.srce.hr/147805

Publication date:

30.3.2015.

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