The heat-shock protein beta-1 (HSPB1) is one of small heat-shock proteins that play an important role in cell functioning by promoting correct folding of other proteins. The HSPB1 mutations are known to cause distal Hereditary Motor Neuropathy type 2B (dHMN2B) and Charcot-Marie-Tooth disease type 2F (CMT2F). More than 30 different mutations in the HSPB1 have been found in patients with CMT2F and dHMN2B. There are cases of the Thr151Ile HSPB1 mutation described in 4 countries: Croatia, Japan, France and Poland. In this paper we present a Polish family with p.Thr151Ile mutation causing distal hereditary motor neuropathy. A 48-year-old male patient presented progressive bilateral lower limb weakness and gait difficulty of typical onset. The presentation of the disease in his daughter, who carries the same mutation is yet uncertain. She has currently no clinical symptoms of the disease but registered mild muscle damage in EMG with correct conduction parameter in ENG.
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http://dx.doi.org/10.24425/fmc.2023.148758 | DOI Listing |
Neuromuscul Disord
November 2024
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.
Axonal Charcot-Marie-Tooth disease (CMT2) and distal hereditary motor neuropathy (dHMN) are associated with a heterogeneous group of genes encoding proteins that are involved in axonal transport, control of RNA metabolism, mitochondrial dynamics and DNA repair. VRK1 (vaccinia-related kinase 1) is a serine/threonine kinase which is widely expressed in human tissue and plays a role in RNA maturation and processing and in DNA damage response. Variants of VRK1 have been associated with neurodevelopmental and neuromuscular disorders including pontocerebellar hypoplasia, motor neuron disorders and distal hereditary motor neuropathy.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
December 2024
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
J Med Case Rep
November 2024
Department of Internal Medicine, Wollo University, Dessie, Ethiopia.
Background: Charcot-Marie-Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits. Postural tremor as a manifestation of Charcot-Marie-Tooth is seldom present, except in a variant of Charcot-Marie-Tooth subtype 1 (Roussy-Levy syndrome), and its presence often results in a diagnostic dilemma.
Case Presentation: We present a 34-year-old Eritrean man who came to our hospital with a complaint of tremors of the hands of 6 months duration.
Neuroimage Clin
November 2024
UMC Utrecht Brain Center, Department of Neurology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands. Electronic address:
Background And Objective: Proximal spinal muscular atrophy (SMA) is caused by deficiency of the ubiquitously expressed survival motor neuron protein. Although primarily a hereditary lower motor neuron disease, it is probably also characterized by abnormalities in other organs. Brain abnormalities and cognitive impairment have been reported in severe SMA.
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