Early‐Onset Parkinsonism Is a Manifestation of the
            
              PPP2R5D
            
            p.
            E200K
            Mutation

Christine Y. Kim; Thomas Wirth; Cécile Hubsch; Andrea H. Németh; Volkan Okur; Mathieu Anheim; Nathalie Drouot; Christine Tranchant; Gabrielle Rudolf; Jamel Chelly; Katrina Tatton‐Brown; Cornelis Blauwendraat; Jean Paul G. Vonsattel; Etty Cortes; Roy N. Alcalay; Wendy K. Chung

doi:10.1002/ana.25863

Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p. E200K Mutation

Annals of Neurology ◽

10.1002/ana.25863 ◽

2020 ◽

Vol 88 (5) ◽

pp. 1028-1033 ◽

Cited By ~ 3

Author(s):

Christine Y. Kim ◽

Thomas Wirth ◽

Cécile Hubsch ◽

Andrea H. Németh ◽

Volkan Okur ◽

...

Keyword(s):

Early Onset ◽

E200k Mutation

Download Full-text

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

European Journal of Immunogenetics ◽

10.1046/j.1365-2370.2001.00233.x ◽

2001 ◽

Vol 28 (1) ◽

pp. 89-93 ◽

Cited By ~ 45

Author(s):

J. R. Garcia-Lozano ◽

M. F. Gonzalez-Escribano ◽

A. Valenzuela ◽

A. Garcia ◽

A. Nunez-Roldan

Keyword(s):

Rheumatoid Arthritis ◽

Vitamin D ◽

Vitamin D Receptor ◽

Early Onset

Download Full-text

Early-Onset GBS Down 31% Since Universal Screening Began

Pediatric News ◽

10.1016/s0031-398x(06)70853-0 ◽

2006 ◽

Vol 40 (2) ◽

pp. 6

Author(s):

Miriam E. Tucker

Keyword(s):

Early Onset ◽

Universal Screening

Download Full-text

Neonatal Early-Onset Sepsis: Revised Guidelines Save Money

Pediatric News ◽

10.1016/s0031-398x(12)70138-8 ◽

2012 ◽

Vol 46 (6) ◽

pp. 10

Author(s):

DIANA MAHONEY

Keyword(s):

Early Onset ◽

Early Onset Sepsis

Download Full-text

Oral Contraceptive Use and Risk of Early-Onset Breast Cancer in Carriers and Noncarriers of BRCA1 and BRCA2 Mutations

Yearbook of Obstetrics Gynecology and Women s Health ◽

10.1016/s1090-798x(08)70471-5 ◽

2006 ◽

Vol 2006 ◽

pp. 269-270

Author(s):

L.P. Shulman

Keyword(s):

Breast Cancer ◽

Oral Contraceptive ◽

Early Onset ◽

Contraceptive Use ◽

Early Onset Breast Cancer ◽

Brca1 And Brca2 ◽

Oral Contraceptive Use ◽

Brca2 Mutations ◽

Brca1 And Brca2 Mutations

Download Full-text

Abstract #805292: Early Onset Primary Hyperparathyroidism with CD73 Gene Mutation

Endocrine Practice ◽

10.1016/s1530-891x(20)39617-8 ◽

2020 ◽

Vol 26 ◽

pp. 59-60

Author(s):

Ana Del Carmen Rivadeneira

Keyword(s):

Primary Hyperparathyroidism ◽

Gene Mutation ◽

Early Onset

Download Full-text

Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures

Developmental Medicine & Child Neurology ◽

10.1017/s0012162200001407 ◽

2000 ◽

Vol 42 (11) ◽

pp. 756-759 ◽

Cited By ~ 61

Author(s):

Uri Kramer ◽

Esther Kahana ◽

Zamir Shorer ◽

Bruria Ben-Zeev

Keyword(s):

Early Onset ◽

Weber Syndrome ◽

Sturge Weber Syndrome

Download Full-text

Neuropsychological Deficits in the Prodromal Phase and Course of an Early-Onset Schizophrenia

Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie ◽

10.1024/1422-4917/a000286 ◽

2014 ◽

Vol 42 (3) ◽

pp. 167-176 ◽

Cited By ~ 3

Author(s):

Vanessa Puetz ◽

Thomas Günther ◽

Berrak Kahraman-Lanzerath ◽

Beate Herpertz-Dahlmann ◽

Kerstin Konrad

Keyword(s):

Verbal Memory ◽

Early Onset ◽

Neuropsychological Functioning ◽

Neuropsychological Testing ◽

Clinical Situation ◽

Adolescent Male ◽

Antipsychotic Treatment ◽

Early Onset Schizophrenia ◽

Prodromal Phase ◽

Illness Onset

Objectives: Although clear advances have been achieved in the study of early-onset schizophrenia (EOS), little is known to date about premorbid and prodromal neuropsychological functioning in EOS. Method: Here, we report on a case of an adolescent male with EOS who underwent neuropsychological testing before and after illness onset. Results: Marked cognitive deficits in the domains of attention, set-shifting, and verbal memory were present both pre-onset and during the course of schizophrenia, though only deficits in verbal memory persisted after illness-onset and antipsychotic treatment. Conclusion: The findings of this case study suggest that impairments in the verbal memory domain are particularly prominent symptoms of cognitive impairment in prodromal EOS and persist in the course of the disorder, which further demonstrates the difficult clinical situation of adequate schooling opportunities for adolescent patients with EOS.

Download Full-text