CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

Abstract

Thirty-one patients with familial amyloidosis, Finnish (FAF) or Agel amyloidosis were studied for signs of central nervous system (CNS) involvement. Clinical neurological examination, conventional cerebrospinal fluid (CSF) studies and computed tomographic (CT) scanning findings were largely normal. In magnetic resonance imaging (MRI), punctate leukoencephalopathy (p<0.05), mostly frontal, and periventricular (p<0.05) and intrapontine signal hyperintensities (p<0.05) were more common in patients than in age-matched control subjects. In comparison with age-matched control subjects, the patients had prolonged central conduction in somatosensory evoked potentials (SEPs) (p<0.05), prolonged brain stem auditory evoked potentials (BAEPs) (p<0.05), and delayed P100 in pattern reversal visual evoked potentials (PVEPs) (p<0.0001). In addition, FAF patients showed mainly non-verbal abnormalities without dementia in neuropsychological testing. The results suggest minor, previously unrecognized CNS involvement in FAF.

Key Words:

• AYMLOIDOSIS
• GELSOLIN
• CENTRAL NERVOUS SYSTEM (CNS)
• FAMILIAL AMYLOID POLYNEUROPATHY (FAP)
• EVOKED POTENTIAL (EP)
• NEUROPSYCHOLOGY
• MAGNETIC RESONANCE IMAGING (MRI)