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 Experiment Videos

Neurologic phenotypes associated with acanthocytosis.

R H Walker1, H H Jung, C Dobson-Stone

  • 1Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA. ruth.walker@mssm.edu

Neurology
|January 11, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Clinical characteristics and outcomes of pheochromocytoma crisis: a literature review of 200 cases.

Journal of endocrinological investigation·2022
Same author

[Seronegative myasthenic syndrome?]

Der Nervenarzt·2019
Same author

[A German version of the Cambridge examination for mental disorders of older people with Down's syndrome and others with intellectual disabilities : A diagnostic procedure for detecting dementia in people with Down's syndrome].

Zeitschrift fur Gerontologie und Geriatrie·2019
Same author

Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease.

Neuropathology and applied neurobiology·2018
Same author

Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic and genetic evaluation.

Neuropathology and applied neurobiology·2017
Same author

Paraneoplastic pemphigus associated with Castleman disease: progression from mucous to mucocutaneous lesions with epitope-spreading phenomena.

The British journal of dermatology·2017
Same journal

Spatiotemporal Associations Between Cortical Microinfarcts and Cortical Superficial Siderosis in Cerebral Amyloid Angiopathy.

Neurology·2026
Same journal

Blood-Brain Barrier Disruption Before Interhospital Transfer for Thrombectomy and Clinical Outcome.

Neurology·2026
Same journal

At Death's Door: Cytosolic Dopamine in Patients With Parkinson Disease.

Neurology·2026
Same journal

Cerebral Artery Pulsatility, Premorbid Blood Pressure, and Small Vessel Disease on Brain Imaging: A Population-Based Study.

Neurology·2026
Same journal

Genetic Risk for Alzheimer Disease, Midlife Hypertension, and Dementia: The ARIC Neurocognitive Study.

Neurology·2026
Same journal

What is the Relevance of Neuron-Tumor Interactions in Malignant CNS Tumors?

Neurology·2026
See all related articles

Neuroacanthocytosis encompasses various disorders, including chorea-acanthocytosis and McLeod syndrome. Genetic testing aids in distinguishing these conditions for better management and future treatments.

Area of Science:

  • Neurology
  • Genetics
  • Hematology

Background:

  • Neuroacanthocytosis typically refers to chorea-acanthocytosis and McLeod syndrome.
  • Other conditions like Huntington disease-like 2 and pantothenate kinase-associated neurodegeneration also exhibit erythrocyte acanthocytosis.
  • Distinct neuroacanthocytosis syndromes, such as Bassen-Kornzweig disease, involve ataxia due to lipoprotein disorders without movement issues.

Purpose of the Study:

  • To highlight the spectrum of disorders associated with neuroacanthocytosis.
  • To emphasize the role of genetic testing in differentiating these conditions.
  • To underscore the importance of accurate diagnosis for genetic counseling, complication monitoring, and therapeutic development.

Main Methods:

  • Review of existing literature and clinical data on neuroacanthocytosis syndromes.

Related Experiment Videos

  • Analysis of phenotypic similarities and differences among related disorders.
  • Discussion of the impact of genetic testing advancements.

    • Main Results:

    • Genetic testing allows for precise differentiation between various neuroacanthocytosis disorders, despite phenotypic overlap.
    • Accurate diagnosis is crucial for effective patient management and genetic counseling.
    • Animal models are being explored for developing targeted therapies for neurodegenerative conditions.

    Conclusions:

    • Neuroacanthocytosis is a broader category than initially defined, encompassing diverse neurological and hematological conditions.
    • Advancements in genetic testing are pivotal for accurate diagnosis and personalized patient care.
    • Future therapeutic strategies for neuroacanthocytosis may benefit from insights gained from animal models.