A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

Vila‐Pueyo, Marta; Sintas, Cèlia; Flotats, M; Gené, Gemma G.; Elorza, X; Fernández‐Fernández, José Manuel; Cormand, Bru; Macaya, Alfons

doi:10.1186/1129-2377-14-s1-p24

Cited by 8 publications

(11 citation statements)

References 2 publications

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“…In some cases, the infants have one of the CACNA1A gene mutations that have been associated with familial hemiplegic migraine. 7,36,37 The disorder may be underdiagnosed as one study found that only 2.4% of pediatricians were aware of BPT; however, it also seems to be the rarest of the periodic syndromes. 35,38 Diagnostic yield of brain magnetic resonance imaging (MRI) and electroencephalogram (EEG) are quite low.…”

Section: Bpt Of Infancymentioning

confidence: 99%

Episodic Syndromes That May Be Associated With Migraine: A.K.A. “the Childhood Periodic Syndromes”

Gelfand¹

2015

Headache

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Previously called “childhood periodic syndromes that are commonly precursors of migraine” in ICHD-II, these disorders were renamed “episodic syndromes that may be associated with migraine” in ICHD-III beta. The specific disorders reviewed in this article include: benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine and cyclical vomiting syndrome, as well as infantile colic which was recently added under the appendix section in ICHD-III beta.

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Section: Bpt Of Infancymentioning

confidence: 99%

Episodic Syndromes That May Be Associated With Migraine: A.K.A. “the Childhood Periodic Syndromes”

Gelfand¹

2015

Headache

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“…Co-occurrence of BPT, BPV, and BTU has been described in the same patient or in patients from the same family, 7-9 suggesting a clinical continuum. Gene mutations in CACNA1A (which encodes the a-subunit of the neuronal P/Q-type calcium channel) have been reported in some cases of BTU, 8,10,11 BPT, 12,13 or BPV, 7 also suggesting a common pathophysiological basis of these three episodic syndromes. Mutations of the CACNA1A gene were initially associated with familial hemiplegic migraine type 1, episodic ataxia 2, spino-cerebellar ataxia type 6 (Rajakulendran et al 14 ), and recently in encephalopathic epilepsy.…”

mentioning

confidence: 99%

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

Humbertclaude

Krams

Nogué

et al. 2018

Develop Med Child Neuro

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Aim Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases. Method In this cross‐sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed. Results Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients. CACNA1A gene mutation was identified in eight families, and KCNA1 and FGF14 mutation in one family respectively. The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). Patients with BPV were less likely to have cognitive dysfunction. Interpretation Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as benign and should be considered as part of the spectrum of a neurodevelopmental disorder. What this paper adds OK Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder.

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“…1,3,5 Recently, mutations in CACNA1A and PRRT2 have been detected in children with BPTI. 3,[9][10][11][12] Such mutations, as well as mutations in ATP1A2 and SCN1A, are known to cause familial hemiplegic migraine. All four of these genes encode ion channels or transmembrane proteins involved in cell signalling.…”

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confidence: 99%

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

Danielsson

Anderlid

Stödberg

et al. 2018

Develop Med Child Neuro

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A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

Cited by 8 publications

References 2 publications

Episodic Syndromes That May Be Associated With Migraine: A.K.A. “the Childhood Periodic Syndromes”

Episodic Syndromes That May Be Associated With Migraine: A.K.A. “the Childhood Periodic Syndromes”

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

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