Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating Variations.

Objectives: To refine the clinical spectrum of a very recently identified phenotype associated with end-truncating pathogenic variations.

Methods: Detailed clinical, neuropsychological, and MRI investigation of 6 patients from 2 unrelated families segregating end-truncating variations.

Results: All patients harbored end-truncating pathogenic variation.

Phenotypic variability of episodic ataxia type 2 mutations: a family study.

Background: Episodic ataxia type 2 (EA2) is characterized by paroxysmal bouts of ataxia and progressive cerebellar dysfunction. Other manifestations may also be associated, such as migraine attacks with or without aura, absence epilepsy and mental retardation.

Methods: To describe the intrafamilial variability of clinical manifestations of 3 patients harboring a novel CACNA1A point mutation in exon 7 (nucleotide insertion c.

Insular involvement in brain infarction increases risk for cardiac arrhythmia and death.

Objective: Brain injuries may induce cardiac dysrhythmias and sudden cardiac death.

Methods: We analyzed 12-lead electrocardiograms of 493 consecutive patients with brain infarction (BI) proved by an magnetic resonance imaging and 493 control subjects matched for age, sex, and center. Insular involvement (insula (+/-)) was assessed by two independent readings of the magnetic resonance imaging scans.

Cerebral sinus venous thrombosis in two patients with spontaneous intracranial hypotension.

We report 2 patients who had clinical and neuroimaging signs of spontaneous intracranial hypotension and who developed cerebral sinus venous thrombosis. This sequence of events -- known after dural puncture but not in spontaneous intracranial hypotension -- was suggested by the change in the pattern of headache, from a postural to a permanent and increasing one. The diagnostic and therapeutic difficulties that this complication raises are discussed.