Chapitre 10 – Échelles et questionnaires d’évaluation

Chapter 8 – Nonmotor Problems in Parkinson Disease

Chapter 8 – Nonmotor problems in Parkinson disease

Background Although homozygous mutations in the PTEN-induced putative kinase 1 ( PINK1 ) gene have been unequivocally associated with early-onset Parkinson disease (PD), the role of single heterozygous PINK1 mutations is less clear. Objective To investigate the role of homozygous and heterozygous PINK1 mutations in a large German pedigree (family W). Design Mutation analysis of PINK1 and results of standardized neurological and motor examination by 3 independent movement disorder specialists, including blinded video rating. Settings University of Lubeck. Participants Twenty family members. Main Outcome Measures The PINK1 genotype and PD status of all family members. Results The index patient of family W carried a homozygous nonsense mutation (c.1366C>T; p.Q456X) and presented with a phenotype closely resembling idiopathic PD but with an onset at 39 years of age. The family included a total of 4 affected homozygous members (age, 60-71 years; age at onset, 39-61 years), 6 members with slight or mild signs of PD (affected) and a heterozygous mutation (age, 31-49 years), and 5 unaffected heterozygous mutation carriers (age, 34-44 years). Although none of the heterozygous affected family members was aware of their signs (asymptomatic), the clinical findings were unequivocal and predominantly or exclusively present on their dominant right-hand side, eg, unilaterally reduced or absent arm swing and unilateral rigidity. The heterozygous members were all considerably younger than the affected homozygous mutation carriers. Conclusions Heterozygous PINK1 mutations may predispose to PD, as was previously suggested by the presence of dopamine hypometabolism in asymptomatic mutation carriers. Long-term follow-up of our large family W provides an excellent opportunity to further evaluate the role of single heterozygous PINK1 mutations later in life, which will have major implications on genetic counseling.

https://jamanetwork.com/journals/jamaneurology/articlepdf/791582/NOC50326.pdf

Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?

Objective To monitor progression of “benign hallucinations” in Parkinson disease (PD). Methods We searched our data repository for subjects with PD with 3 sets of neuropsychological testing during 3 years and Unified Parkinson's Disease Rating Scale thought disorder scores taken at 4- to 12-month intervals during this period. We found 48 patients with benign hallucinations, defined as a thought disorder score of 2 (benign hallucinations, insight retained), receiving no treatment for hallucinations. We followed up thought disorder scores under best medical management for at least 3 years or until a thought disorder score of 3 (loss of insight) or 4 (delusions) occurred. In subjects whose thought disorder scores remained at 2, we assessed neuroleptic use and decreases in PD medications to abate hallucinations. Results Most subjects (81%) progressed to thought disorder scores of 3 or 4. In 7 (78%) of 9 subjects who retained a thought disorder score of 2, PD medications were reduced to treat hallucinations, and 3 subjects (33%) also received neuroleptics. If the composite end point (any of the criteria) was used, 96% of subjects progressed, with only 2 subjects continuing with stable, untreated benign hallucinations. Conclusions Because hallucinations progress, the concept of benign hallucinations is prognostically misleading. Though hallucinations with retained insight may be “benign” for the moment, they portend serious consequences. The term benign hallucinations of PD should be considered generally unsound and dropped from operative vocabulary.

https://jamanetwork.com/journals/jamaneurology/articlepdf/791413/NOC60008.pdf

The malignant course of "benign hallucinations" in Parkinson disease.

New version of the UPDRS: Development methods and working document for field testing

Clinimetric testing of the new UPDRS (MDS-UPDRS) vs. original version

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New version of the UPDRS: Development methods and working document for field testing

Clinimetric testing of the new UPDRS (MDS-UPDRS) vs. original version