Page 122 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma
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Table 3. Clinical features of 14 adults with 22q11.2 deletion syndrome and suspected Parkinson’s disease
Case Sex Age, y PD
diagnosis Bradykinesia Rigidity Rest
tremor Progression Antiparkinson
use
Antipsychotic
use
Comorbid conditions,
remarks
Chapter 3
1 F 48 √ a NR NR NR NR - - Korsakoff syndrome
2 F 57 √ a √ NR NR NR √ √ CD, wheelchair user
3 F 63 √ a √- - √ √ b √
4 c M 20 - √- √ NR - -
5 F 46 - - √ √ √- √
6 M 46 - √ √- √- √
7 M 48 - √ NR √ NR - √ CD, oral tardive dyskinesia
8 F 50 - √- - √ √ √
9 M 55 - √ √ √ √ √ b √ CD
10 F 55 d - √ √ √ √ √ √ CD, Wheelchair user
11 F 56 - √ √- √- √
12 M 66 - √ √- √ √ b √ CD, myoclonus, antecollis
13 F 62 d - NR NR NR NR NR -
14 F 69 - √- √ √- - CD, wheelchair user
a All 3 had a clinical PD diagnosis: case 2 by a neurologist, and case 3 by a movement disorder specialist.
b Three patients were known to have a good response on antiparkinsonian medication.
c The only patient with dopaminergic imaging results available showed typical reduced presynaptic dopaminergic signaling.
d Age at death.
√
=
yes, - = no, y = year, NR = not reported/unknown, PD = Parkinson’s disease, CD = cognitive decline.
