Autosomal dominant primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder defined by the presence of calcifications affecting at least the basal ganglia with no secondary cause. It is associated with diverse symptoms including movement disorders, psychiatric disturbances, and cognitive impairment. PFBC is caused by lossof-function mutations in 2 groups ...

BACKGROUND AND PURPOSE We investigated the residual abnormalities on computed tomography in a series of patients with proven intracerebral hemorrhage to determine whether the type of lesion is related to the site and size of the initial hematoma. METHODS In a partially prospective follow-up study, we studied computed tomographic scans of 42 patients with spontaneous intracerebral hemorrhage a...

OBJECTIVES Progressive dementia is a rare phenotypic feature of female X-ALD carriers. Even rarer is the additional presence of further risk factors for dementia, such as diabetes, hypothyroidism, and hepatopathy. We report a unique female X-ALD carrier presenting with severe, progressive dementia, paraspasticity, sphincteric dysfunction, and multisystem disease. CASE REPORT A 79 years-old fe...

Familial idiopathic basal ganglia calcification (Fahr`s disease) is a rare neurodegenerative disorder characterized by symmetrical and bilateral calcification of the basal ganglia. Calcifications may also occur in other brain regions such as dentate nucleus, thalamus, and cerebral cortex. Both familial and non-familial cases of Fahr`s disease have been reported, predominantly with autosomal-dom...