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Treatment of impulse control disorders and dopamine agonist withdrawal syndrome in Parkinson's disease

Nirenberg, M J
Parkinson's disease (PD) patients who are treated with a dopamine agonist (DA) frequently develop impulse control disorders (ICDs) such as compulsive eating, shopping/buying, pathological gambling, or hypersexuality. The secondary consequences of ICDs can be severe, and the only known effective treatment is to taper or discontinue DA therapy. Unfortunately, about 20% of patients who attempt to taper a DA develop dopamine agonist withdrawal syndrome (DAWS), with symptoms such as anxiety/panic, dysphoria, apathy, suicidality, orthostatic hypotension, diaphoresis, anorexia, nausea/vomiting, and fatigue. In some cases, DAWS may be so severe and long-lasting that affected patients are unable to taper DA therapy and experience permanent ICDs. Preventative strategies for ICDs and DAWS are therefore critical.
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EMBASE:628016360
ISSN: 1559-0585
CID: 3931732

Comprehensive identification of delusions and olfactory, tactile, gustatory, and minor hallucinations in Parkinson's disease psychosis

Kulick, Catherine V; Montgomery, Kathryn M; Nirenberg, Melissa J
INTRODUCTION/BACKGROUND:Psychotic symptoms are underdiagnosed in Parkinson's disease (PD), and there is a need for a comprehensive PD psychosis rating scale. METHODS:Cross-sectional analysis of 199 consecutive PD outpatients. After a routine clinical visit that included the Unified Parkinson's Disease Rating Scale (UPDRS) and Non-Motor Symptoms Questionnaire (NMS-Quest), subjects completed the enhanced Scale for the Assessment of Positive Symptoms in PD (eSAPS-PD), a structured clinical interview that included the standard SAPS-PD with additional prompts for delusions and olfactory, gustatory, and minor hallucinations. Based on the combined results of these assessments, subjects were categorized as having major psychotic symptoms (hallucinations or delusions; PDP-major), isolated minor psychotic symptoms (passage hallucinations, presence hallucinations, or illusions; PDP-minor), or no psychotic symptoms (PD-controls). RESULTS:We identified 58 subjects (29%) with psychotic symptoms, including 28 (14%) with major psychotic symptoms and 30 (15%) with isolated minor psychotic symptoms. Hallucinations were present in 56 subjects (28%); most commonly visual (24%, of which 21% were minor only), followed by olfactory (6%), tactile (4%), auditory (2%), and gustatory (1%). The eSAPS-PD detected psychotic symptoms in more subjects (n = 55, 28%) than all other assessments combined (clinical visit, UPDRS part 1, and NMS-Quest) (n = 22, 11%). Compared with PD-controls, PDP-minor subjects had a higher burden of other non-motor symptoms on the Non-Motor Symptoms Scale (37 [27-51] vs. 18 [9-36], p < 0.001) and lower quality of life scores on the PD Quality of Life Questionnaire (138 [125-151] vs. 149 [137-165], p = 0.01). CONCLUSION/CONCLUSIONS:The eSAPS-PD can markedly improve detection of psychotic symptoms in PD.
PMID: 29653909
ISSN: 1873-5126
CID: 3037472

Functional neurological disorders in Parkinson disease

Wissel, Benjamin D; Dwivedi, Alok K; Merola, Aristide; Chin, Danielle; Jacob, Cara; Duker, Andrew P; Vaughan, Jennifer E; Lovera, Lilia; LaFaver, Kathrin; Levy, Ariel; Lang, Anthony E; Morgante, Francesca; Nirenberg, Melissa Jill; Stephen, Christopher; Sharma, Nutan; Romagnolo, Alberto; Lopiano, Leonardo; Balint, Bettina; Yu, Xin X; Bhatia, Kailash P; Espay, Alberto J
OBJECTIVE:To ascertain demographic and clinical features of Parkinson disease (PD) associated with functional neurological features. METHODS:A standardised form was used to extract data from electronic records of 53 PD patients with associated functional neurological disorders (PD-FND) across eight movement disorders centres in the USA, Canada and Europe. These subjects were matched for age, gender and disease duration to PD patients without functional features (PD-only). Logistic regression analysis was used to compare both groups after adjusting for clustering effect. RESULTS:Functional symptoms preceded or co-occurred with PD onset in 34% of cases, nearly always in the most affected body side. Compared with PD-only subjects, PD-FND were predominantly female (68%), had longer delay to PD diagnosis, greater prevalence of dyskinesia (42% vs 18%; P=0.023), worse depression and anxiety (P=0.033 and 0.025, respectively), higher levodopa-equivalent daily dose (972±701 vs 741±559 mg; P=0.029) and lower motor severity (P=0.019). These patients also exhibited greater healthcare resource utilisation, higher use of [(123)I]FP-CIT SPECT and were more likely to have had a pre-existing psychiatric disorder (P=0.008) and family history of PD (P=0.036). CONCLUSIONS:A subtype of PD with functional neurological features is familial in one-fourth of cases and associated with more psychiatric than motor disability and greater use of diagnostic and healthcare resources than those without functional features. Functional manifestations may be prodromal to PD in one-third of patients.
PMID: 29549192
ISSN: 1468-330x
CID: 3001342

Barriers to Adherence to Physical Therapy, Occupational therapy, and Speech/Swallowing Therapy in Parkinson's Disease [Meeting Abstract]

Vurture, Gregory W.; Kulick, Catherine V.; Montgomery, Kathryn M.; Nirenberg, Melissa J.
ISI:000453090803394
ISSN: 0028-3878
CID: 3561782

A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome

Nirenberg, M J; Chaouni, R; Biller, T M; Gilbert, R M; Paisan-Ruiz, C
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects. Most symptoms improved with carbamazepine, consistent with an underlying cation channelopathy. We identified a variant in the transient receptor potential ankyrin A1 channel (TRPA1) gene that selectively cosegregated with CFS and the other hypersensitivity-hyperexcitability symptoms. This variant (c.2755C>T) resulted in a premature stop codon at amino acid 919 (p.Arg919*) in the outer pore of the channel. TRPA1 is a widely distributed, promiscuous plasmalemmal cation channel that is strongly implicated in the pathophysiology of the specific hypersensitivity-hyperexcitability symptoms observed in these subjects. Thus, we have identified a novel TRPA1 variant that is associated with CFS as part of a generalized hypersensitivity-hyperexcitability disorder. These findings clarify the diverse functional roles of TRPA1, and underscore the importance of this channel as a potential therapeutic target.
PMCID:5654709
PMID: 28436534
ISSN: 1399-0004
CID: 2543912

Functional neurological features in Parkinson disease: a multicenter case-control study [Meeting Abstract]

Wissel, BD; Dwivedi, AK; Chin, D; Merola, A; Jacob, C; Duker, AP; Vaughan, JE; Lovera, L; LaFaver, K; Levy, A; Lang, AE; Morgante, F; Nirenberg, MJ; Stephen, C; Sharma, N; Romagnolo, A; Lopiano, L; Balint, B; Bhatia, K; Espay, AJ
ISI:000412293000047
ISSN: 1531-8257
CID: 2738232

Identification of a novel TRPAl mutation associated with carbamazepine-responsive cramp-fasciculation syndrome [Meeting Abstract]

Biller, T M; Paisan-Ruiz, C; Gilbert, R M; Chaouni, R; Nirenberg, M J
Objective: To identify a genetic cause for familial cramp-fasciculation syndrome (CFS). Background: CFS is a muscle hyperexcitability syndrome that may present not only with muscle cramps, stiffness, and fasciculations, but also with pain, generalized fatigue, anxiety, hyperreflexia, and paresthesias. The clinical features of CFS and improvement with carbamazepine suggest that it may represent a cation channelopathy. Although familial cases have been reported, a genetic etiology for CFS has yet to be identified. Design/Methods: Whole exome sequencing was performed on a father-son pair with carbamazepine-responsive CFS. After filtering for common genetic variations, only seven candidate single nucleotide variants were validated and found to be present in both affected subjects. Disease segregation analyses carried out in four unaffected family members were used to reduce this to a single disease-segregating mutation. An ethnicity-matched control population was used to assess the pathogenicity of this mutation. Results: We identified a novel mutation in the transient receptor potential ankyrin 1 ion channel (TRPA1; MIM #615040) gene in subjects with CFS. This disease-segregating TRPA1 mutation (c.2755C>T) resulted in a premature stop codon at amino-acid 919 (p.Arg919Stop), and was found to be absent in the control population. TRPA1 is a widely distributed, promiscuous plasmalemmal cation channel activated by endogenous and environmental irritants. TRPA1 has been associated with the pathogenesis of pain, paresthesias, and inflammation, and is therefore under investigation as a potential therapeutic target for pain and muscle cramps. The identified mutation was localized to the putative selectivity filter of TRPA1, a region implicated in the pore dilatation process, and thus the degree to which TRPA1 is activated by noxious stimuli. Conclusions: Autosomal dominant CFS is associated with a novel mutation in the putative selectivity filter of TRPA1. These findings further clarify the functional role of human TRPA1, and underscore the importance of this ion channel as a potential therapeutic target
EMBASE:616552482
ISSN: 1526-632x
CID: 2608552

Letter re: The terrorist inside my husband's brain [Letter]

Nirenberg, Melissa J
PMID: 28289172
ISSN: 1526-632x
CID: 2918282

Augmentation and impulsive behaviors in restless legs syndrome: Coexistence or association?

Nirenberg, Melissa J; Djamshidian, Atbin; Heim, Beatrice; Hogl, Birgit; Seppi, Klaus; Poewe, Werner
PMID: 27956569
ISSN: 1526-632x
CID: 2956902

Late onset wilson's disease with central pontine and extrapontine MRI changes [Meeting Abstract]

Biller, T; Fatterpekar, G; Nirenberg, M; Brys, M
Objectives: Classic radiological presentation of Wilson's disease (WD) with face of the "giant panda" is typically used to distinguish WD from other extrapyramidal disorders. Central pontine myelinolysis like (CPMlike) changes in WD are rarely reported and are distinct from the classic commonly known osmotic demyelination. Although CPM-like changes on MRI in young WD patients are common, there are no published reports of such radiological picture in the exceptional cases of late onset WD. We report on a late onset WD with sequential MRI changes with response to de-coppering therapy. Methods: A 64 year-old male with pulmonary sarcoidosis presented with a two-year history of worsening axial ataxia, postural, kinetic and rest tremors and cognitive decline. His examination was also significant for generalized hyperreflexia, Babinski sign and the presence of Kayser-Fleischer rings. WD diagnosis was confirmed with low ceruloplasmin and with the presence of homozygous mutation in the ATP7B gene. Results: MRI at symptom onset showed diffuse T2/FLAIR hyperintensity in the pons which was contiguous with hyperintensity of the midbrain, as well as focal hyperintensity in left thalamus and generalized cortical atrophy. Following nine months of chelation with trientine, partial resolution of the T2 hyperintensity in the pons was observed, while thalamus hyperintensity became less conspicuous. Conclusions: WD must be considered in all patients that present with hepatic or neurological symptoms without definitive diagnosis, regardless of age. WD and CPM-like radiological changes in older adult WD patients may be under-recognized, but genetic confirmation and clinical exam findings should guide treatment
EMBASE:72163569
ISSN: 1353-8020
CID: 1944912