PRKAR1B-related neurodegenerative dementia with intermediate filaments

ORPHA: 412066

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with PRKAR1B-related neurodegenerative dementia with intermediate filaments, sourced from HPO and Orphanet clinical annotations.

DementiaInappropriate behaviorFrontotemporal dementiaMotor deteriorationMemory impairmentAbnormal neuron morphologyShort attention spanAnxietyApathyParkinsonismBradykinesiaPostural instabilityShuffling gaitLanguage impairmentDiffuse cerebral atrophyFallsMuscle stiffnessShort stepped shuffling gaitImpaired visuospatial constructive cognitionInertiaFrontotemporal cerebral atrophy

Classification & Codes

Orphanet Code

ORPHA:412066
PRKAR1B-related neurodegenerative dementia with intermediate filaments
OrphanetORPHA:412066
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO