Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide

Journal of the Neurological Sciences
I R LivingstoneR J Pennington

Abstract

Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a temporary clinical and biochemical improvement in two cases.

References

Mar 1, 1979·Neurology·J P Blass
Sep 1, 1979·Archives of Neurology·J R Donat, R Auger
May 1, 1978·Archives of Neurology·O B EvansG M Fenichel
Mar 1, 1970·The Journal of Clinical Investigation·J P BlassB W Uhlendorf
Aug 1, 1968·Archives of Disease in Childhood·F A HommesJ D Reerink
Nov 1, 1971·Archives of Neurology·J P BlassW K Engel
Jun 1, 1970·The Journal of Pediatrics·H L GreeneG Hug
Apr 1, 1968·Archives of Neurology·W Hill, H Sherman
Mar 1, 1969·Archives of Neurology·J C White
Oct 1, 1962·Archives of Ophthalmology·R L SOGG, W F HOYT
Sep 1, 1963·Minnesota Medicine·A J DALE

❮ Previous
Next ❯

Citations

May 1, 1996·Movement Disorders : Official Journal of the Movement Disorder Society·M Y NeufeldA D Korczyn
Jan 1, 1996·Journal of Inherited Metabolic Disease·M S van der KnaapJ Valk
Nov 1, 1989·Journal of the Neurological Sciences·L A BindoffD M Turnbull
Jan 1, 1986·Pediatric Neurology·J A TibblesK Farrell
May 5, 2007·Nature Clinical Practice. Neurology·Frédéric SedelJean-Marie Saudubray
Oct 1, 1991·The British Journal of Ophthalmology·P G BainM D O'Brien
Mar 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·C H Hawkes
Mar 23, 2006·European Journal of Pediatrics·Francois-G DebrayGrant A Mitchell
Apr 1, 1989·Australian and New Zealand Journal of Medicine·G F Feeney, R S Boyle
Dec 10, 1999·Movement Disorders : Official Journal of the Movement Disorder Society·A Thomas, M Onofrj
Jan 1, 1987·Movement Disorders : Official Journal of the Movement Disorder Society·J H Friedman, P A Hollmann
May 24, 2020·International Journal of Molecular Sciences·Giacomo GaroneFrancesco Nicita
Jun 1, 1989·Clinical Genetics·R LutzC Gay
Oct 18, 2020·International Journal of Molecular Sciences·Juan ZhaoRikard Blunck
Jan 1, 1986·Movement Disorders : Official Journal of the Movement Disorder Society·S T Gancher, J G Nutt

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Movement Disorders : Official Journal of the Movement Disorder Society
J H Friedman, P A Hollmann
Movement Disorders : Official Journal of the Movement Disorder Society
George MellickRichard Boyle
Pediatrics International : Official Journal of the Japan Pediatric Society
Satoshi SatoAkinori Hoshika
© 2021 Meta ULC. All rights reserved