Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
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 to...
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of its...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Provider and patient perspectives on the diagnosis and treatment of Alzheimer's disease: A global perspective from the Global Alzheimer's Leadership Series (GoALS).

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

Repurposed drug prioritization pipeline for a multi-arm platform trial in clinical Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

Ultra-fast MRI for brain-age prediction in a real-world cognitive disorders clinic.

Frontiers in aging neuroscience·2026
Same author

The landscape of dementia research, diagnosis, treatment, and care in Latin America.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

Accelerated 3D MRI for ARIA monitoring in Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same author

The TREM2 agonistic antibody AL002 in early Alzheimer's disease: a phase 2 randomized trial.

Nature medicine·2026
Same journal

Pallidal Deep Brain Stimulation in Dystonia: Investigating Differential Response by Dystonia Distribution.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026
Same journal

Essential Tremor and Digital Biomarkers: A Scoping Review Using the TRACE Framework to Map Readiness for Clinical Trials and Routine Practice.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026
Same journal

Effects of Focal Low-Energy Extracorporeal Shock Wave Treatment (ESWT) as an Add-On to Botulinum Toxin (BoNT) Injection on Pisa Syndrome in Parkinson's Disease.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026
Same journal

Longitudinal Intention Tremor Trajectories in Essential Tremor: A Comment.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026
Same journal

Immediate and Short-Term Effects of Multimodal Neuromodulatory Rehabilitation Following Thalamotomy for Writer's Cramp: A Case Report.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026
Same journal

Magnetic Resonance Image Guided Focused Ultrasound Thalamotomy for Essential Tremor in a Patient with an Arteriovenous Malformation.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026
See all related articles

Related Experiment Video

Updated: May 13, 2026

MRI-guided Focused Ultrasound Thalamotomy for Patients with Medically-refractory Essential Tremor
05:54

MRI-guided Focused Ultrasound Thalamotomy for Patients with Medically-refractory Essential Tremor

Published on: December 13, 2017

SPG11 Presenting with Tremor.

Susanne A Schneider1, Catherine J Mummery, Mohadeseh Mehrabian

  • 1Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University Luebeck, Germany ; Dementia Research Centre, Institute of Neurology, London, United Kingdom.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|February 27, 2013
PubMed
Summary
This summary is machine-generated.

Genetic testing identified homozygous mutations in SPG11, the most common cause of complicated hereditary spastic paraplegia (HSP) with a thin corpus callosum, in a young male with progressive walking difficulties.

Keywords:
SPG11Tremorhereditary spastic paraplegiaspatacsin

More Related Videos

Assessment of Spontaneous Alternation, Novel Object Recognition and Limb Clasping in Transgenic Mouse Models of Amyloid-β and Tau Neuropathology
10:02

Assessment of Spontaneous Alternation, Novel Object Recognition and Limb Clasping in Transgenic Mouse Models of Amyloid-β and Tau Neuropathology

Published on: May 28, 2017

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

Related Experiment Videos

Last Updated: May 13, 2026

MRI-guided Focused Ultrasound Thalamotomy for Patients with Medically-refractory Essential Tremor
05:54

MRI-guided Focused Ultrasound Thalamotomy for Patients with Medically-refractory Essential Tremor

Published on: December 13, 2017

Assessment of Spontaneous Alternation, Novel Object Recognition and Limb Clasping in Transgenic Mouse Models of Amyloid-β and Tau Neuropathology
10:02

Assessment of Spontaneous Alternation, Novel Object Recognition and Limb Clasping in Transgenic Mouse Models of Amyloid-β and Tau Neuropathology

Published on: May 28, 2017

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

Area of Science:

  • Neurology
  • Genetics
  • Neuroscience

Background:

  • Hereditary spastic paraplegias (HSPs) are a diverse group of neurological disorders.
  • HSPs cause progressive lower limb weakness and spasticity, impairing mobility.
  • Additional neurological or non-neurological symptoms can occur.

Purpose of the Study:

  • To report a case of SPG11 presenting with action tremor and progressive gait difficulties.
  • To highlight the diagnostic process involving neuroimaging and genetic testing for SPG11.
  • To discuss the clinical spectrum, diagnosis, and management of SPG11.

Main Methods:

  • Case report of a 19-year-old male with action tremor and gait impairment.
  • Cerebral magnetic resonance imaging (MRI) revealed callosal atrophy.
  • Genetic analysis identified homozygous mutations in the SPG11 gene.

Main Results:

  • The patient presented with hand tremor and subsequent walking difficulties.
  • MRI confirmed corpus callosum atrophy, a key indicator for SPG11.
  • Homozygous SPG11 mutations were confirmed, establishing the diagnosis.

Conclusions:

  • SPG11 is the most frequent cause of autosomal recessive complicated HSP associated with a thin corpus callosum.
  • Early diagnosis through genetic testing is crucial for managing SPG11.
  • Understanding the clinical features aids in differential diagnosis and patient care.