A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy

QR Code

A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy

Background. Hereditary motor and sensory neuropathies (HMSN) are a genetically diverse group of disorders of the peripheral nerves characterized by gradual development of weakness, muscular hypo-/atrophy, sensory disturbances in distal areas of the extremities. Currently among the recessive forms, t...

Full description

Saved in:

Bibliographic Details
Main Authors:	S. A. Kurbatov, T. B. Milovidova, V. P. Fedotov, A. F. Murtazina, G. E. Rudenskaya, O. A. Shchagina, A. V. Polyakov
Format:	Article
Language:	Russian
Published:	ABV-press 2018-07-01
Series:	Нервно-мышечные болезни
Subjects:	hereditary motor and sensory neuropathy gdap1 gene recessive inheritance cerebral accident
Online Access:	https://nmb.abvpress.ru/jour/article/view/286
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Spectrum of sonographic changes in hereditary motor and sensory neuropathy with autosomal dominant and X-linked inheritance
by: E. S. Naumova, et al.
Published: (2016-07-01)

Leber’s Hereditary Optic Neuropathy with Neurological Abnormalities. Case Report
by: N. A. Andreeva, et al.
Published: (2021-10-01)

The Role of Mitophagy in Hereditary Optic Neuropathies. Literature Review
by: N. A. Andreeva, et al.
Published: (2021-10-01)

Diagnostic utility of exome sequencing for inherited peripheral neuropathies
by: O. A. Shchagina, et al.
Published: (2020-12-01)

A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins
by: V. P. Fedotov, et al.
Published: (2015-05-01)

Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
by: E. L. Dadali, et al.
Published: (2017-11-01)

Analysis of primary diagnostics of hereditary motor and sensory neuropathies in the Republic of Bashkortostan
by: E. V. Saifullina, et al.
Published: (2017-05-01)

Hereditary neuropathies caused by mutations in the gene encoding peripheral myelin protein 22
by: Bjelica Bogdan, et al.
Published: (2025-01-01)

Evaluation of life quality in patients with hereditary neuropathy Charcot—Marie—Tooth in the Krasnoyarsk Region
by: N. A. Shnayder, et al.
Published: (2011-04-01)

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
by: Christopher R. Cashman, et al.
Published: (2025-07-01)

ETIOLOGICAL STRUCTURE OF NONGLAUCOMATOUS OPTIC NEUROPATHIES
by: N. L. Sheremet, et al.
Published: (2019-02-01)

Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
by: E. L. Dadali, et al.
Published: (2016-07-01)

Leber’s Hereditary Optic Neuropathy. A Clinical Case
by: O. I. Karushin, et al.
Published: (2018-10-01)

Neurophysiological differential diagnostic markers in hereditary neuropathy with liability to pressure palsies and chronic inflammatory demyelinating polyradiculoneuropathy
by: D. A. Grishina, et al.
Published: (2023-03-01)

Recurrent peroneal neuropathy in adolescent: clinical case
by: V. A. Bulanova, et al.
Published: (2015-02-01)

Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia
by: A. F. Murtazina, et al.
Published: (2020-08-01)

Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series
by: A. F. Murtazina, et al.
Published: (2023-06-01)

Heritage Transmission: Issues of Legal Regulation
by: I. A. Koryuchina
Published: (2022-12-01)

Charcot - Marie - Toots disease: description of 2 clinical cases of the disease in members of the same family (father and daughter)
by: V. S. Fedorova, et al.
Published: (2020-09-01)

Unusual congenital polydactyly in mini-pigs from the breeding group of the Institute of Cytology and Genetics (Novosibirsk, Russia)
by: S. V. Nikitin, et al.
Published: (2021-10-01)

AUTOSOMAL RECESSIVE PERIPHERAL NEUROPATHY WITH NEUROMYOTONIA (ARAN-NM): DESCRIPTION OF A CLINICAL CASE CONFIRMED BY A MUTATION IN THE HINT1 GENE
by: Olga A. Klochkova, et al.
Published: (2017-09-01)

Hereditary transthyretin amyloidosis
by: T. A. Adyan, et al.
Published: (2020-01-01)

Comparative multimodal sensory testing in multifocal motor neuropathy and multifocal variant of chronic inflammatory demyelinating polyradiculoneuropathy
by: T. A. Tumilovich, et al.
Published: (2024-03-01)

Increased BNIP3-mediated mitophagy attenuates GDAP1 loss of function - implications for Charcot-Marie-Tooth disease 4A
by: Li Zhang, et al.
Published: (2025-09-01)

Organization experience of diagnostic and medicosocial services for patients with Charcot—Marie—Tooth disease in Krasnoyarsk region
by: E. V. Glushchenko, et al.
Published: (2015-02-01)

GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case
by: Artem A. Babkin, et al.
Published: (2024-09-01)

THE OPTIMIZED METHODS FOR DIAGNOSIS OF HEREDITARY FORMS OF EPILEPSY
by: A. G. Malov
Published: (2018-02-01)

HEREDITARY, VARIABILITY AND PATHOLOGY. PART 2
by: P. F. Litvitskii
Published: (2012-09-01)

To the problem of classification of clinical forms of the pediatric neuropathy
by: G. G. Butorin, et al.
Published: (2018-07-01)

The clinical spectrum and prevalence of hereditary ophthalmopathology child population in 12 districts of the Rostov region
by: O. L. Kireeva, et al.
Published: (2014-07-01)

CATAMNESIS OF CHILDREN WITH COMPROMISED HEREDITARY BACKGROUND OF THROMBOSIS
by: L. V. Zhdanova, et al.
Published: (2014-04-01)

Control of hereditary diseases : report of a WHO Scientific Group.
Published: (1996)

Severe hypertriglyceridaemia with length-related small fibre sensory neuropathy as a complication of previous gestational diabetes mellitus
by: Fatima Iqbal, et al.
Published: (2025-07-01)

Marching neuropathy of the nervus digitalis plantaris proprii medialis halluci among military personnel
by: S. N. Bardakov, et al.
Published: (2023-06-01)

Calculating pain sensation in neuropathies
by: A. Soufla, et al.
Published: (2024-05-01)

Hereditary spastic paraplegias
by: R. F. Kutlubaeva, et al.
Published: (2024-01-01)

A Case Report of Hereditary Angioedema: Challenges in Diagnosis and Management
by: Alvina Widhani, et al.
Published: (2023-07-01)

New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
by: E. L. Dadali, et al.
Published: (2016-07-01)

EXPERIENCE OF IMMUNIZATION OF CHILDREN IN KRASNODAR KRAI WITH HEREDITARY HEMOLYTIC ANEMIAS
by: V. N. Firsova, et al.
Published: (2017-10-01)

Vascular pathology in hereditary connective tissue disorders
by: M. A. Perekalskaya, et al.
Published: (2013-04-01)