Familial spastic paraparesis: A novel mutation in a 4-year-old girl

Tandem mass spectrometry, gas chromatography-mass spectrometry, serum ammonia, lipid profile, nerve conduction, and electromyography studies were normal. [...]it probably is not the cause of spastic paraparesis in the index child. [...]in any child presenting with early onset toe-walking and spastic...

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Bibliographic Details
Published in:Annals of the Indian Academy of Neurology 2020-05, Vol.23 (3), p.386-387
Main Authors: Singanamalla, Bhanudeep, Kesavan, Shivan, Saini, Arushi
Format: Article
Language:English
Subjects:
Age
Ammonia
Differential diagnosis
Electromyography
Families & family life
Family medical history
Gait
Gas chromatography
Genetic aspects
Letters to the Editor
Magnetic resonance imaging
Mass spectrometry
Mass spectroscopy
Mutation
Nerve conduction
Nervous system diseases
Scientific imaging
Spastic paraparesis
Spasticity
Spinal cord
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Description
Summary:Tandem mass spectrometry, gas chromatography-mass spectrometry, serum ammonia, lipid profile, nerve conduction, and electromyography studies were normal. [...]it probably is not the cause of spastic paraparesis in the index child. [...]in any child presenting with early onset toe-walking and spasticity with similar family history, a differential diagnosis of autosomal-dominant HSP due to ATL1 (SPG3A) must be considered.
ISSN:0972-2327
1998-3549
DOI:10.4103/aian.AIAN_424_19