Background: To investigate the genetic and environmental factors responsible for phenotype variability in a family carrying a novel CACNA1A missense mutation. Mutations in the CACNA1A gene were identified as responsible for at least three autosomal dominant disorders: FHM1 (Familial Hemiplegic Migraine), EA2 (Episodic Ataxia type 2), and SCA6 (Spinocerebellar Ataxia type 6). Overlapping clinical features within individuals of some families sharing the same CACNA1A mutation are not infrequent. Conversely, reports with distinct phenotypes within the same family associated with a common CACNA1A mutation are very rare. Case presentation: A clinical, molecular, neuroradiological, neuropsychological, and neurophysiological study was carried out in proband and his carrier mother. The new heterozygous missense variant c.4262G > A (p.Arg1421Gln) in the CACNA1A gene was detected in the two affected family members. The proband showed a complex clinical presentation characterized by developmental delay, poor motor coordination, hemiplegic migraine attacks, behavioral dysregulation, and EEG abnormalities. The mother showed typical episodic ataxia attacks during infancy with no other comorbidities and mild cerebellar signs at present neurological evaluation. Conclusions: The proband and his mother exhibit two distinct clinical phenotypes. It can be hypothesized that other unknown modifying genes and/or environmental factors may cooperate to generate the wide intrafamilial variability.
Headaches are a common problem in children and adolescents. Indomethacinresponsive headaches are a poorly known and rare group of primary headaches, with few cases during childhood. These include a heterogeneous group of disorders characterized by their response to indomethacin, a non-steroidal antiinflammatory drug which inhibits cyclooxygenase and therefore the production of prostaglandins. Indomethacin-responsive headaches include Valsalva-induced headaches (cough, exercise or sex headache), primary stabbing headache, hypnic headache and the trigeminal autonomic cephalalgias (TACs) [a group of primary headache disorders that includes cluster headache (CH), paroxysmal hemicrania (PH), hemicrania continua (HC) and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing/cranial autonomic features (SUNCT/SUNA)]. It seems useful to make a review of the literature about these disorders.
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