[Cerebrospinal fluid and plasma corticotropin-releasing hormone (CRH) in dentatorubropallidoluysian atrophy (DRPLA)--study in two cases of hereditary DRPLA].

The levels of corticotropin-releasing hormone (CRH) in cerebrospinal fluid (CSF) and plasma were examined in two cases of hereditary dentatorubropallidoluysian atrophy (DRPLA). Both patients were female and showed cerebellar ataxia, choreic movement and subcortical dementia. The onset ages of the first and second patients were 30 and 47 years, respectively. The first patient did not have the cerebral white matter damage (CWD). The second patient of late onset was associated with marked and diffuse CWD which was shown as high signal intensity by T2-weighted image on MRI. Regardless of accompaniment with CWD, the radioimmunoassay studies of CSF and plasma CRH revealed that both patients had markedly reduced levels of CRH in CSF and plasma. Together with the recent anatomic evidence on the distribution of CRH neurons and receptors in the central nervous system, the present results suggest that degeneration of the subcortical structures including the basal nuclei, the brain stem and the cerebellum involves degeneration and/or dysfunction of the CRH neuronal system which, presumably, are related to those of some other neurotransmitter systems, and that the reduced activity of the CRH system plays a pathophysiological role in such diseases as DRPLA with degeneration of the subcortical nuclei and the cerebellum.