Abstract
BACKGROUND: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability.
METHODS: Three patients received neurological evaluation and underwent RAB39B sequencing.
RESULTS: Two novel RAB39B frameshift variants were found to result in the absence of RAB39B protein (family 1: c.137dupT; family 2: c.371delA). Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. Paramagnetic substance deposition in the substantia nigra, globus pallidi, red nucleus, putamen and pulvinar was assessed by brain imaging. Two patients also showed moderate calcification of globus pallidi.
CONCLUSION: In this study we highlight the evidence that X-linked early-onset Parkinsonism associated with Intellectual Disability occurs as a pattern of clinical and neuroimaging features attributable to RAB39B pathogenic variants.
| Original language | English |
|---|---|
| Pages (from-to) | 142-146 |
| Number of pages | 5 |
| Journal | Parkinsonism and Related Disorders |
| Volume | 44 |
| DOIs | |
| Publication status | Published - Nov 2017 |
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- Journal Article
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X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. / Ciammola, Andrea; Carrera, Paola; Di Fonzo, Alessio; Sassone, Jenny; Villa, Roberta; Poletti, Barbara; Ferrari, Maurizio; Girotti, Floriano; Monfrini, Edoardo; Buongarzone, Gabriele; Silani, Vincenzo; Cinnante, Claudia Maria; Mignogna, Maria Lidia; D'Adamo, Patrizia; Bonati, Maria Teresa.
In: Parkinsonism and Related Disorders, Vol. 44, 11.2017, p. 142-146.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene
AU - Ciammola, Andrea
AU - Carrera, Paola
AU - Di Fonzo, Alessio
AU - Sassone, Jenny
AU - Villa, Roberta
AU - Poletti, Barbara
AU - Ferrari, Maurizio
AU - Girotti, Floriano
AU - Monfrini, Edoardo
AU - Buongarzone, Gabriele
AU - Silani, Vincenzo
AU - Cinnante, Claudia Maria
AU - Mignogna, Maria Lidia
AU - D'Adamo, Patrizia
AU - Bonati, Maria Teresa
N1 - Copyright © 2017 Elsevier Ltd. All rights reserved.
PY - 2017/11
Y1 - 2017/11
N2 - BACKGROUND: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability.METHODS: Three patients received neurological evaluation and underwent RAB39B sequencing.RESULTS: Two novel RAB39B frameshift variants were found to result in the absence of RAB39B protein (family 1: c.137dupT; family 2: c.371delA). Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. Paramagnetic substance deposition in the substantia nigra, globus pallidi, red nucleus, putamen and pulvinar was assessed by brain imaging. Two patients also showed moderate calcification of globus pallidi.CONCLUSION: In this study we highlight the evidence that X-linked early-onset Parkinsonism associated with Intellectual Disability occurs as a pattern of clinical and neuroimaging features attributable to RAB39B pathogenic variants.
AB - BACKGROUND: RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability.METHODS: Three patients received neurological evaluation and underwent RAB39B sequencing.RESULTS: Two novel RAB39B frameshift variants were found to result in the absence of RAB39B protein (family 1: c.137dupT; family 2: c.371delA). Patients showed unilateral rest tremor and bradykinesia; one of them also displayed an early-onset postural tremor. Paramagnetic substance deposition in the substantia nigra, globus pallidi, red nucleus, putamen and pulvinar was assessed by brain imaging. Two patients also showed moderate calcification of globus pallidi.CONCLUSION: In this study we highlight the evidence that X-linked early-onset Parkinsonism associated with Intellectual Disability occurs as a pattern of clinical and neuroimaging features attributable to RAB39B pathogenic variants.
KW - Journal Article
U2 - 10.1016/j.parkreldis.2017.08.021
DO - 10.1016/j.parkreldis.2017.08.021
M3 - Article
C2 - 28851564
VL - 44
SP - 142
EP - 146
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
ER -