Dopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant.

An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25 mg of levodopa two times per day substantially improved his motor features and quality of life. Laboratory investigations and MR scans of the brain were unremarkable. Whole-exome sequencing identified a pathogenic variant in the ATP1A3 gene. The ATP1A3-spectrum disorders include non-classical phenotypes such as paroxysmal dystonic attacks. A response to dopamine response is unusual in these disorders. This case highlights the importance of levodopa trials in early-onset dystonia cases.

Dengue fever presenting as acute cerebellar ataxia: Case report and literature review.

Dengue fever has been associated with several neurological complications, cerebellar involvement being among the rarest of them. Here, we describe the case of a 70-year-old female who presented a cerebellar syndrome during the first day of an arboviral infection, posteriorly confirmed as dengue fever. Among the seven other cases in which the relationship between dengue virus and ataxia was reported, only in one cerebellar presentation occurred as early. Onset, course, and prognosis, as well as the adequate investigation and management of these patients, are discussed. While the disease pattern is not better characterized by future studies, differential diagnosis and close follow-up are essential tools for guaranteeing good outcomes.

Headache Attributed to Craniocervical Dystonia - A Little Known Headache.

BACKGROUND: Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. METHOD: This was a narrative review. RESULTS: Craniocervical dystonia was associated with muscle pain in 67-89% of the cases. Headaches of any kind affected approximately 60% of patients with craniocervical dystonia, and were located mainly in the occipital and cervical regions. Headache attributed to craniocervical dystonia specifically was rarely found, and it was described in only one patient out of 80 in one study. Treatment with botulinum neurotoxin is considered to be the first-line treatment for focal dystonias, including craniocervical dystonia, and besides reducing clinical severity, impairment, and pain scores among the patients with craniocervical dystonia, there were also descriptions of improvements in headaches attributed to craniocervical dystonia and other headaches associated with this dystonia. CONCLUSIONS: Headache attributed to craniocervical dystonia has been poorly studied. There is a need for more studies to evaluate its characteristics and treatment.