Current view on phenotypic and genetic features of autosomal recessive inherited peripheral neuropathies

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Abstract

Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. IPNs can be inherited in autosomal dominant, autosomal recessive or X-linked manner. In clinical practice, isolated cases are more common, and the absence of genealogical data significantly complicates differential diagnosis. About 45% of HMSN cases lack genetic confirmation.

For a number of autosomal recessive IPNs, peculiar clinical, electrophysiological and histological features can be distinguished, however, recent publications show IPNs often to have pronounced clinical and genetic heterogeneity. That complicates the differential diagnosis of hereditary neuropathies. Prevalence of autosomal recessive pathology increases in remote populations and isolates due to a local founder effects. As the literature review showed, there are many such examples among autosomal recessive IPNs. Detection of the founder effect and major mutations in the population and development of diagnostic algorithms based on these data can significantly improve the diagnostic process.

About the authors

Aysylu F. Murtazina

Association of Neuromuscular Disorders Specialists; Medical Center “Practical Neurology”

Author for correspondence.
Email: aysylumurtazina@gmail.com
Россия, Moscow

Olga A. Shchagina

Research Center for Medical Genetics

Email: aysylumurtazina@gmail.com
Россия, Moscow

Sergey S. Nikitin

Association of Neuromuscular Disorders Specialists; Medical Center “Practical Neurology”

Email: aysylumurtazina@gmail.com
Россия, Moscow

Elena L. Dadali

Research Center for Medical Genetics

Email: aysylumurtazina@gmail.com
Россия, Moscow

Alexander V. Polyakov

Research Center for Medical Genetics

Email: aysylumurtazina@gmail.com
Россия, Moscow

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