Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Familial CNS tumors.

J P Sieb¹, S M Pulst, A Buch

¹Neurologische Universitätsklinik, Bonn, Federal Republic of Germany.

Journal of Neurology

|July 1, 1992

Summary

A family exhibited a high incidence of central nervous system tumors across two generations, suggesting a potential genetic link. The observed pattern points towards autosomal dominant inheritance for these brain and spinal tumors.

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

Safety of vertical osteotomies in segmental Le Fort I procedures: a one-year radiological follow-up study.

International journal of oral and maxillofacial surgery·2024

Same author

Dimethylformamide dimethyl acetal reagent for in situ chiral analyses of organic molecules on Titan with the Dragonfly mass spectrometer space instrument (Dragonfly mission).

Journal of chromatography. A·2024

Same author

Evaluation of the interference of Tenax®TA adsorbent with dimethylformamide dimethyl acetal reagent for gas chromatography-Dragonfly mass spectrometry and future gas chromatography-mass spectrometry in situ analysis.

Journal of chromatography. A·2023

Same author

Influence of pH and salts on DMF-DMA derivatization for future Space Applications.

Analytica chimica acta·2023

Same author

Comparison of tetramethylammonium hydroxide (TMAH), trimethylsulfonium hydroxide (TMSH), and trimethylphenylammonium hydroxide (TMPAH) thermochemolysis for in situ space analysis of organic molecules in planetary environments.

Talanta·2023

Same author

Thermal stability of adsorbents used for gas chromatography in space exploration.

Journal of chromatography. A·2021

Area of Science:

Neuro-oncology
Human Genetics
Cancer Research

Background:

Central nervous system (CNS) tumors are rare, and familial clustering suggests a genetic predisposition.
Understanding the inheritance patterns of CNS tumors is crucial for genetic counseling and risk assessment.

Observation:

A family presented with five individuals across two generations diagnosed with CNS tumors.
Affected individuals included sisters with meningioma and ependymoma, and their offspring with cerebral and spinal meningiomas.
Clinical examination excluded features of neurofibromatosis type 1 (NF1) or type 2 (NF2).

Findings:

The observed distribution of CNS tumors within the family is consistent with autosomal dominant inheritance.
The penetrance of the genetic factor appears to be relatively high, given the number of affected individuals across generations.
The specific genetic mechanisms underlying this familial predisposition to meningioma and ependymoma warrant further investigation.

Implications:

This case highlights a potential novel inherited predisposition to CNS tumors.
Further research into the genetic basis of this family's tumors could identify new genes or pathways involved in neuro-oncogenesis.
Identification of such inherited syndromes is vital for early diagnosis and management of affected families.

Related Experiment Videos