Parkinson disease (familial)
Log in to starLast updated 2mo ago
Log in to add personal notes on this page.
A 45-year-old man develops tremor, bradykinesia, and rigidity. Multiple family members across three generations have been affected with similar symptoms.
- AD: SNCA (α-synuclein), LRRK2 (most common genetic cause)
- AR: PRKN (parkin), PINK1, PARK7 (DJ-1) - usually earlier onset
- Parkinsonism: Resting tremor, bradykinesia ("drive slowly in a PARKING lot"), cogwheel rigidity, postural instability → falls
- Familial cases: younger onset, often <50 years
- LRRK2: most common genetic form, later onset, similar to sporadic
Mnemonic: Parkin-syn = parkin, alpha synuclein
- Primarily clinical: bradykinesia plus resting tremor and/or rigidity, with response to dopaminergic therapy
- Consider genetic testing (panel including LRRK2, SNCA, PRKN, PINK1, PARK7) for early-onset or strong family history
- DaTscan (dopamine transporter imaging) can support nigrostriatal degeneration when the diagnosis is uncertain
- Symptomatic dopaminergic therapy: levodopa/carbidopa, dopamine agonists, MAO-B inhibitors
- Deep brain stimulation for motor fluctuations and medication-refractory tremor
- Physical, occupational, and speech therapy; manage non-motor symptoms (depression, constipation, sleep, orthostasis)
- Genetic counseling tailored to the identified gene and inheritance pattern (AD vs AR)
LRRK2 - movements "Look Really Rigid"