Table 2.

Clinical and pathologic characteristics of patients who had multiple system atrophy with glucocerebrosidase gene mutations

Characteristic	Patient 1	Patient 2	Patient 3	Patient 4
Age at onset, y	52	56	59	53
Symptom duration, y	9	11	8	8
Age at death, y	61	63	67	61
Premortem diagnosis	MSA	MSA	MSA	MSA
Family history of neurologic disease	No	Yesa	No	No
Ashkenazi Jewish descent	No	Yes	Yes	Yes
Genetic results	Heterozygous T369M	Homozygous N370S	Heterozygous N370S	Heterozygous R496H
Signs/symptoms of autonomic dysfunction	Orthostasis, urinary symptoms, constipation, erectile dysfunction	Orthostasis, urinary symptoms, constipation	Orthostasis, urinary symptoms, constipation	Orthostasis, urinary symptoms, constipation
Early falls (<1 y)	No	No	No	Yes
Cognitive signs/symptoms	Yes	Yes	Yes	No
RBD	Yes	Yes	No	Yes
Signs of parkinsonism	Yes	Yes	Yes	Yes
Cerebellar signs	No	No	Yes	Yes
Pyramidal signs	No	Yes	Yes	No
Pathological diagnosis	MSA‐P	MSA‐P	MSA, mixed	MSA‐C
Lewy bodies	None	None	Rare	None
Alzheimer disease changes	Tau‐positive neurons and neuropil threads in entorhinal cortex and parahippocampal gyrus	Rare neurofibrillary tangles in entorhinal cortex	Very few neuronal pretangles in amygdala	Rare p‐Tau–labeled neurons and neuropil threads in temporal lobe

MSA, multiple system atrophy; RBD, rapid eye movement behavior disorder; MSA‐P, multiple system atrophy, parkinsonian variant; MSA‐C, multiple system atrophy, cerebellar variant.

^aThe mother of this patient had a head tremor, and the father had bilateral hand tremors; and 1 paternal uncle and 1 paternal cousin had Parkinson's disease.