ArticleMovement disorders clinical practice2020
The Head Retraction Reflex in Niemann-Pick Type C: A Novel Diagnostic Clue.
Article in Movement disorders clinical practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Myoclonus and other jerky movement disorders.Clinical neurophysiology practice · 2022Review
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4 authors.
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Abstract
backgroundThe head retraction reflex (HRR) is characterized by the extension of the neck after percussion stimulation of the central facial region. It is either absent or habituates in normal individuals and can become exaggerated and persistent in certain pathological conditions, having been most commonly reported in hyperekplexia and stiff-person syndrome disorders. It has not, however, been reported in Niemann-Pick type C (NPC), a lipid storage disorder with a variety of neurologic and systemic manifestations. The diagnosis of NPC is often delayed because of the rarity of the condition and the subtlety of clinical signs. CASES: We present 3 consecutive cases of genetically confirmed NPC with a pathological HRR, which was not present in controls. Neurophysiological analysis showed findings suggestive of myoclonus of brainstem origin.
conclusionWe propose that the presence of a pathological HRR, an easily performed clinical test, may provide a clue to the diagnosis of NPC.
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