Page 121 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinson’s disease in 22q11.2DS
When including individuals with a clinical suspicion of PD, 3.4% (95% CI:
2.2–4.6, n=29) was found to have PD and 19.8% (95% CI: 12.4-27.2, n=22)
of those aged 50 years and older (Table 1). The SMR increased to 57.3
(95% CI: 37.9–83.4). Clinical characteristics of the 14 adults with suspected
PD are presented in Table 3. For the two adults who died, no postmortem
results were available.
Table 2. Patient characteristics and parkinsonian features in 15 adults with 22q11.2 deletion
syndrome and Parkinson’s disease
3
Patient characteristics N %
History of anti-psychotic medication 10/15 Intellectual functioning
Normal
Borderline
Mild intellectual disability
Moderate intellectual disability
Severe intellectual disability
2
3
4
3
3
66.7
13.3
20.0
26.7
20.0
20.0
Parkinsonian features N Mean ± SD
Age at PD diagnosis, y
Male
Female
15
8
7
Age at motor onset, y
Male
Female
15
8
7
N %
Bradykinesia 15/15 Rigidity 15/15 Rest tremor 11/14 Postural instability 8/11 Progression motor symptoms 13/13 Symmetrical motor symptoms
Asymmetrical motor symptoms
Anti-parkinsonian medication
Good response
Questionable response
1/8
7/8
15/15
11/14
3/14
Typical findings dopaminergic imaging a 5/7 49.0 ± 10.7
51.4 ± 10.9
46.2 ± 10.5
43.5 ± 12.2
46.8 ± 11.8
39.9 ± 12.5
100.0
100.0
78.6
72.7
100.0
12.5
87.5
100.0
78.6
21.4
71.4
a One adult without typical findings had dopaminergic imaging several years prior to PD diagnosis,
the second adult without typical findings presented with asymmetrical parkinsonism with
symptoms that were stable on risperidone and neuropathology results that included extensive
nigral degeneration and loss of TH immunoreactivity in the striatum, extensive degeneration of
TH-positive cells in the substantia nigra pars compacta without Lewy bodies or Lewy neurite
pathology.2
PD= Parkinson’s disease, n=number, SD= standard deviation, y= year.
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