Related Experiment Video

Updated: Sep 14, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

15.5K

TBK1-associated motor neuron disease with concomitant vacuolar myopathy: a case resembling a multisystem

Yasmine Sluyts1, Kristof Van Schil2, Tine Deconinck2

  • 1Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.

Neuromuscular Disorders : NMD
|July 24, 2025
PubMed

Insights

This study details a patient with amyotrophic lateral sclerosis (ALS)-myopathy overlap and a TBK1 gene variant. It expands understanding of TBK1-associated diseases and their similarities to VCP-related multisystem proteinopathies.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Amyotrophic lateral sclerosis (ALS) and myopathy can co-occur, a phenotype associated with rare inherited multisystem proteinopathies (MSPs).
  • TBK1 gene variants are increasingly recognized in neurological disorders.
  • VCP-related MSP is the most common form of multisystem proteinopathy.

Observation:

  • A 75-year-old patient presented with an ALS-myopathy overlap phenotype.
  • Clinical evaluation revealed mixed myopathic and neurogenic findings on EMG, muscle MRI, and biopsy, notably P62-immunoreactive rimmed vacuoles.

Findings:

  • A pathogenic variant in the TBK1 gene was identified in the patient.
  • This case expands the known clinical spectrum of TBK1-associated disease.
  • Pathophysiological similarities were observed between TBK1- and VCP-related diseases.

Implications:

  • Highlights TBK1 as a gene implicated in ALS-myopathy overlap syndromes.
  • Suggests shared underlying mechanisms between different genetic forms of multisystem proteinopathies.
  • Informs diagnostic approaches and potential therapeutic strategies for rare inherited neuromuscular disorders.
Keywords:
Motor neuron diseaseMultisystem proteinopathiesMuscle weaknessTBK1Vacuolar myopathy

More Related Videos

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

7.0K
Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin08:07

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin

Published on: March 24, 2023

2.0K

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
52
Microtubule Associated Motor Proteins01:32

Microtubule Associated Motor Proteins

Eukaryotic cells have different motor proteins for transporting various cargo within the cell. These motor proteins differ based on the filament they associate with, the direction they move within the cell, and the type of cargo they transport. Motor proteins that associate with microtubules are known as microtubule-associated motor proteins. There are two families of microtubule-associated motor proteins —Kinesins and Dyneins. Both these proteins assist in the transport of cellular...
8.5K
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.0K
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.9K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
710