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

[Neurophysiological study in Alpers syndrome]

J M Martínez-Mena1, A Manquillo, J Sáez

  • 1Servicio de Neurofisiología Clínica, Hospital Ramon y Cajal, Madrid, España.

Revista De Neurologia
|April 9, 1998
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

Challenges in modeling the Agility multileaf collimator in treatment planning systems and current needs for improvement.

Medical physics·2022
Same author

Chronic toxicity and long-term outcome in intraoperative electron radiotherapy as boost followed by whole-breast irradiation.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2021
Same author

Activation of pro- and anti-inflammatory responses in lung tissue injury during the acute phase of PRRSV-1 infection with the virulent strain Lena.

Veterinary microbiology·2020
Same author

Expression of Siglec-1, -3, -5 and -10 in porcine cDC1 and cDC2 subsets from blood, spleen and lymph nodes and functional capabilities of these cells.

Developmental and comparative immunology·2020
Same author

Photocatalytic performance of nitrogen doped ZnO structures supported on graphene oxide for MB degradation.

Chemosphere·2019
Same author

Analysis of the expression of porcine CD200R1 and CD200R1L by using newly developed monoclonal antibodies.

Developmental and comparative immunology·2019

Alpers syndrome, a progressive neuronal degeneration, presents with severe psychomotor retardation and drug-resistant epilepsy. Neurophysiological studies like EEG and evoked potentials reveal characteristic abnormalities aiding early diagnosis.

Area of Science:

  • Neuroscience
  • Pediatric Neurology
  • Clinical Electrophysiology

Background:

  • Alpers syndrome, also known as infantile progressive poliodystrophy, is a rare genetic disorder.
  • It is characterized by progressive neuronal loss, particularly in the cerebral grey matter.
  • Key clinical features include psychomotor retardation, intractable epilepsy, and apnea crises.

Observation:

  • This study reviewed neurophysiological findings in three children diagnosed with Alpers syndrome.
  • Methods included serial electroencephalography (EEG), polysomnography, brainstem auditory evoked potentials (PEAT), and visual evoked potentials (VEP).

Findings:

  • EEG demonstrated characteristic bursts of suppressed bioelectric activity, varying in duration and frequency.
  • Polysomnography revealed unstructured cerebral activity and significant obstructive/mixed apneas.

Related Experiment Videos

  • PEAT showed reduced wave amplitudes and altered morphology, while VEP indicated delayed P100 wave latency.

    • Implications:

    • Electrophysiological studies, alongside clinical data, are crucial for diagnosing Alpers syndrome during a patient's lifetime.
    • These findings highlight the utility of neurophysiological assessments in characterizing the neurodegeneration associated with Alpers syndrome.
    • Early and accurate diagnosis facilitates timely management and genetic counseling.