Olfactory deficits in deletion syndrome 22q11.2

Romanos, Marcel; Schecklmann, Martin; Kraus, Katharina T.; Fallgatter, Andreas J.; Warnke, Andreas; Lesch, Klaus‐Peter; Gerlach, Manfred

doi:10.1016/j.schres.2010.12.015

Cited by 12 publications

(22 citation statements)

References 9 publications

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“… 22 However, we did not assess these features in this study and believe them unlikely to be helpful as they are common manifestations of 22q11.2DS itself. 16 , 23 , 24 …”

Section: Discussionmentioning

confidence: 99%

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

Boot

Butcher²,

Udow

et al. 2018

Neurology

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ObjectiveTo delineate the natural history, diagnosis, and treatment response of Parkinson disease (PD) in individuals with 22q11.2 deletion syndrome (22q11.2DS), and to determine if these patients differ from those with idiopathic PD.MethodsIn this international observational study, we characterized the clinical and neuroimaging features of 45 individuals with 22q11.2DS and PD (mean follow-up 7.5 ± 4.1 years).Results22q11.2DS PD had a typical male excess (32 male, 71.1%), presentation and progression of hallmark motor symptoms, reduced striatal dopamine transporter binding with molecular imaging, and initial positive response to levodopa (93.3%). Mean age at motor symptom onset was relatively young (39.5 ± 8.5 years); 71.4% of cases had early-onset PD (<45 years). Despite having a similar age at onset, the diagnosis of PD was delayed in patients with a history of antipsychotic treatment compared with antipsychotic-naive patients (median 5 vs 1 year, p = 0.001). Preexisting psychotic disorders (24.5%) and mood or anxiety disorders (31.1%) were common, as were early dystonia (19.4%) and a history of seizures (33.3%).ConclusionsMajor clinical characteristics and response to standard treatments appear comparable in 22q11.2DS-associated PD to those in idiopathic PD, although the average age at onset is earlier. Importantly, treatment of preexisting psychotic illness may delay diagnosis of PD in 22q11.DS patients. An index of suspicion and vigilance for complex comorbidity may assist in identifying patients to prioritize for genetic testing.

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“… 22 However, we did not assess these features in this study and believe them unlikely to be helpful as they are common manifestations of 22q11.2DS itself. 16 , 23 , 24 …”

Section: Discussionmentioning

confidence: 99%

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

Boot

Butcher²,

Udow

et al. 2018

Neurology

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“…VCFS is characterized by cardiovascular and craniofacial dysmorphology, as well as olfactory impairment (Romanos, et al, 2011). Individuals with schizophrenia have similarly shown minor midline physical anomalies (e.g., increased palate height, cleft palate; O’Callaghan, Larkin, Kinsella, & Waddington, 1991), as well as abnormalities on structural and functional olfactory indices (Moberg et al, 2006; Moberg, et al, 2004; Turetsky, Crutchley, Walker, Gur, & Moberg, 2009; Turetsky et al, 2007; Turetsky et al, 2000).…”

Section: Discussionmentioning

confidence: 99%

“…Thus, it is reasonable to consider whether the olfactory abnormalities observed in schizophrenia might also be related to abnormalities in the genetic mediation of dopamine catabolism. Prior studies have shown that individuals with 22q deletion syndrome are impaired on measures of odor identification, odor discrimination and olfactory sensitivity compared to healthy controls (Romanos et al, 2011; Sobin et al, 2006). Bassett and colleagues (2007) similarly examined birhinal odor identification performance in Met and Val hemizygotes with 22q deletion syndrome.…”

Section: Introductionmentioning

confidence: 99%

Effects of the val(158)met catechol-o-methyltransferase gene polymorphism on olfactory processing in schizophrenia.

Kamath¹,

Moberg²,

Gur³

et al. 2012

Behavioral Neuroscience

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The catechol-O-methyltransferase (COMT) val158met polymorphism has received attention in schizophrenia due to its role in prefrontal dopamine catabolism. Given the rich dopaminergic innervations of the olfactory bulb and the influence of dopamine on the transmission of olfactory signals, we examined the influence of COMT genotype status on the olfactory processing impairment observed in schizophrenia. The University of Pennsylvania Smell Identification Test was administered unirhinally to individuals with schizophrenia (n = 42) and a demographically-matched sample of healthy controls (n = 30). Individuals were genotyped for the COMT val158met polymorphism. A statistically significant interaction of diagnosis and COMT genotype was observed, such that schizophrenia heterozygotes and Met homozygotes showed impaired odor identification accuracy relative to Val158 homozygotes. These findings could not be explained by factors such as antipsychotic medication status, clinical symptomatology, or demographic and illness characteristics. Notably, the schizophrenia Val158 homozygotes’ odor identification performance was comparable to that of the control group. These data indicate that odor identification impairments observed in schizophrenia are influenced by the COMT val158met polymorphism. This relationship is consistent with specific dopaminergic modulation of primary olfactory sensory afferents, rather than a broader effect on cognitive processes. Future studies examining the olfactory processing deficit in schizophrenia with respect to other olfactory measures and COMT haplotypes is warranted.

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“…23 Other medications that may be associated with parkinsonism, including selective serotonin reuptake inhibitors, 32 are also frequently taken by individuals with 22q11.2DS. Nonmotor features that can help distinguish between medication-induced parkinsonism and PD, 33 for example, sleep disorders and olfactory deficits, are common in individuals with 22q11.2DS without PD, 9,10,19,26 as is fatigue. 34 In addition to PD, parkinsonism not meeting criteria for PD may be more common in individuals with 22q11.2DS than in the general population.…”

Section: Diagnostic Challengesmentioning

confidence: 99%

“…23 22q11.2DS-specific management considerations necessitate a multidisciplinary approach. 26 Prevalent comorbid conditions in 22q11.2DS that may affect PD expression and/or treatment outcome include, but are not limited to, recurrent seizures, 16 the possible association between 22q11.2DS and other movement disorders (e.g., myoclonic disorders), 9,[11][12][13] psychiatric disorders, 8 intellectual disability, 26 sensory dysfunction, 5,9,10,19 endocrinological disorders (i.e., thyroid dysfunction, hypoparathyroidism, hypocalcemia, and hypomagnesemia), 5,20,30 and obstructive sleep apnea. 22 In the case of planned treatment with clozapine, 38 which has proven efficacy for schizophrenia in 22q11.2DS, 39 prophylactic anticonvulsant treatment is recommended given the lowered seizure threshold.…”

Section: Managementmentioning

confidence: 99%

22q11.2 Deletion Syndrome–Associated Parkinson's Disease

Boot

Bassett

Marras

2018

Movement Disord Clin Pract

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Background22q11.2 deletion syndrome (22q11.2DS) is a multisystem condition associated with an increased risk of early‐onset Parkinson's disease (PD).MethodsWe review the clinical, neuroimaging, and neuropathological observations, as well as diagnostic challenges, of PD in 22q11.2DS. We conducted a search of PubMed up until June 1, 2018 and personal files to identify relevant publications.Results22q11.2DS‐associated PD is responsible for approximately 0.5% of early‐onset PD. The hallmark motor symptoms and neuropathology of PD, and typical findings of reduced striatal dopamine transporter binding with molecular imaging, are present in 22q11.2DS‐associated PD. Mean age at PD onset in 22q11.2DS is relatively young (∼40 years). Patients with 22q11.2DS‐associated PD show a good response to levodopa.ConclusionsFurther recognition of 22q11.2DS and study of PD in people with 22q11.2DS could provide insights into the mechanisms that cause PD in the general population. 22q11.2DS may serve as an identifiable PD model to study prodromal PD and disease‐modifying treatments.

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Olfactory deficits in deletion syndrome 22q11.2

Cited by 12 publications

References 9 publications

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

Effects of the val(158)met catechol-o-methyltransferase gene polymorphism on olfactory processing in schizophrenia.

22q11.2 Deletion Syndrome–Associated Parkinson's Disease

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