Table 1.
Phenotypes of different monogenic Parkinson’s disease with motor and non-motor symptoms.
Gene | Disease onset | Inheritance | Motor symptoms | Non-motor symptoms |
---|---|---|---|---|
PARK1/PARK4-SNCA | Early | Autosomal dominant | Rapid progression, good levodopa response; most often experience bradykinesia and rigidity; only about 30% report resting tremor and postural instability. | Cognitive decline is the most common, followed by depression, autonomic symptoms, and psychotic symptoms; includes olfactory disorders. |
PARK8-LRRK2 | Late | Autosomal dominant/autosomal recessive | Good response to levodopa; postural instability; gait difficulty phenotype; progressed at a rate similar to iPD. | Fewer nonmotor manifestations than iPD. |
PARK17-VPS35 | Early | Autosomal dominant | Phenotype similar to iPD; Case reports only Tremor-predominant PD. | Non-motor symptoms similar to iPD. |
PARK2-Parkin | Juvenile or early | Autosomal recessive | Slow progress; good response to dopaminergic treatment, usually complicated by dystonia and prominent freezing of gait; with sleep benefit on most symptoms. | Less severe than in iPD; less olfactory dysfunction; performed better on the Mini-Mental State Examination, clinical dementia rating, attention, memory, and visuospatial performance; but may have more serious impulse control disorders. |
PARK6-PINK1 | Juvenile or early | Autosomal recessive | Progresses slowly; levodopa responds well and persistent; sleep benefit; the common symptom is bradykinesia and rigidity; fewer pyramidal signs or hyperreflexia. | Psychiatric symptoms are more prominent; include anxiety and depression, but cognitive impairment is less involved; Hyposmia seems to be common. |
PARK7-DJ-1 | Juvenile or early | Autosomal recessive | Good levodopa response; dystonia is particularly common; others include postural tremor. | The non-motor symptoms are more prominent, including depression, anxiety, and other mental illness, cognitive decline. |
GBA | Early | Autosomal dominant | Similar to iPD, but the onset is earlier and the course is more serious. | Non-motor symptoms are more prominent than iPD; cause more serious cognitive impairments, working memory, executive function, and visual-spatial ability. The incidence of anxiety and depression is high, autonomic dysfunction may be more severe, and olfactory disturbance is similar to iPD; are associated with idiopathic RBD and possible RBD in PD patients. |