Intractable Rare Dis Res. 2022;11(1):40-42. (DOI: 10.5582/irdr.2021.01148)

Posterior reversible encephalopathy syndrome due to arterial hypertension may mark the onset of the symptomatic phase in Huntington's disease

Giorelli M


Autonomic dysregulation of cardiovascular functions marks early Huntington’s disease (HD). Blood-brain barrier (BBB) is dysfunctional in HD. A 37-year-old female carrying 41 CAG triplets in the huntingtin gene acutely presented with a multifaceted syndrome attributable to posterior reversible encephalopathy syndrome (PRES). Syndrome was associated with arterial hypertension (AHT). The syndrome fully recovered both by imaging and clinical signs after normalization of arterial pressure during hospitalization. Immediately after hospital discharge, the patient developed a complex psychiatric syndrome and choreic movements that represented conversion to the symptomatic phase of HD. A one-year later follow up clearly showed the patient had developed the symptomatic stage of HD by presenting both psychiatric symptoms and choreic movements. Onset of AHT may represent an early premonitory signal of HD becoming manifested. Induction of PRES might be associated with BBB impairment in HD.

KEYWORDS: Huntington's disease, arterial hypertension, autonomic dysfunction, posterior reversible encephalopathy syndrome, blood-brain barrier

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