J Invest Dermatol 2017 Jun 7. Epub 2017 Jun 7.

Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), 33 Badachu Road, Beijing, 100144, China. Electronic address:

J Eur Acad Dermatol Venereol 2017 May 23. Epub 2017 May 23.

Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.

Background: Atrophic papulosis is a rare thrombo-occlusive disease, characterized by the appearance of multiple atrophic porcelain-white skin papules, with a surrounding erythematous rim, which are histologically consisting of wedge-shaped necrosis of the dermis.

Objective: It consists of two variants: (i) the benign atrophic papulosis (BAP) only involving the skin and (ii) the malignant atrophic papulosis (MAP) also involving several internal organs with a cumulative five-year survival rate of approx. 55%. Read More

J Neurosci 2017 Jun 24;37(25):6087-6097. Epub 2017 May 24.

Motivation, Brain and Behavior Laboratory, Brain and Spine Institute, Paris, 75013, France,

Instrumental learning is a fundamental process through which agents optimize their choices, taking into account various dimensions of available options such as the possible reward or punishment outcomes and the costs associated with potential actions. Although the implication of dopamine in learning from choice outcomes is well established, less is known about its role in learning the action costs such as effort. Here, we tested the ability of patients with Parkinson's disease (PD) to maximize monetary rewards and minimize physical efforts in a probabilistic instrumental learning task. Read More

J Cutan Aesthet Surg 2017 Jan-Mar;10(1):60-62

La'Mer Clinic, Mumbai, Maharashtra, India.

Int J Dermatol 2017 Jul 25;56(7):770-772. Epub 2017 Apr 25.

Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Br J Dermatol 2017 Apr 13. Epub 2017 Apr 13.

Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Reticulate pigmentary disorders are a group of disorders characterized by hyperpigmented and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura. Although, each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting. Read More

Ann Dermatol 2017 Apr 24;29(2):215-218. Epub 2017 Mar 24.

Department of Dermatology, Kosin University College of Medicine, Busan, Korea.

Degos disease, also referred to as malignant atrophic papulosis, was first described in 1941 by Köhlmeier and was independently described by Degos in 1942. Degos disease is characterized by diffuse, papular skin eruptions with porcelain-white centers and slightly raised erythematous telangiectatic rims associated with bowel infarction. Although the etiology of Degos disease is unknown, autoimmune diseases, coagulation disorders, and vasculitis have all been considered as underlying pathogenic mechanisms. Read More

J Eur Acad Dermatol Venereol 2017 Mar 29. Epub 2017 Mar 29.

Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain.

Glycobiology 2017 Mar 17:1-10. Epub 2017 Mar 17.

Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115, USA.

Protein O-fucosyltransferase-1 (POFUT1), which transfers fucose residues to acceptor sites on serine and threonine residues of epidermal growth factor-like repeats of recipient proteins, is essential for Notch signal transduction in mammals. Here, we examine the consequences of POFUT1 loss on the oncogenic signaling associated with certain leukemia-associated mutations of human Notch1, report the structures of human POFUT1 in free and GDP-fucose bound states, and assess the effects of Dowling-Degos mutations on human POFUT1 function. CRISPR-mediated knockout of POFUT1 in U2OS cells suppresses both normal Notch1 signaling, and the ligand-independent signaling associated with leukemogenic mutations of Notch1. Read More

Pediatr Dermatol 2017 May 20;34(3):e109-e115. Epub 2017 Mar 20.

Department of Dermatology, Instituto Nacional de Salud del Niño, Lima, Perú.

Pediatric Degos disease is rare, with only 36 cases reported in the medical literature. Classically the diagnosis has been established according to pathognomonic histopathologic findings, but when these features are not present, there may be a delay in diagnosis. We report the second congenital case of Degos disease, highlighting the clinical and dermoscopic findings. Read More

J Clin Invest 2017 Apr 13;127(4):1485-1490. Epub 2017 Mar 13.

Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD. Read More

Am J Dermatopathol 2017 Feb 14. Epub 2017 Feb 14.

*Department of Dermatology, University of Central Florida College of Medicine, Orlando, FL; and †Department of Dermatology, University of Florida College of Medicine, Gainesville, FL.

Degos disease manifests as 2 distinct clinical variants, malignant atrophic papulosis and benign atrophic papulosis, which are distinguished by the presence or absence of systemic disease. Both forms feature cutaneous involvement typified by erythematous papules with scar-like centers, and the classic histologic picture is described as wedge-shaped dermal necrosis overlying thrombotic vasculopathy. However, the histopathology of early lesions is distinct and more variable. Read More

Mov Disord 2017 May 6;32(5):693-704. Epub 2017 Feb 6.

Inserm, U 1127, Paris, France.

Background: The objective of this study was to investigate pedunculopontine nucleus network dysfunctions that mediate impaired postural control and sleep disorder in Parkinson's disease.

Methods: We examined (1) Parkinson's disease patients with impaired postural control and rapid eye movement sleep behavior disorder (further abbreviated as sleep disorder), (2) Parkinson's disease patients with sleep disorder only, (3) Parkinson's disease patients with neither impaired postural control nor sleep disorder, and (4) healthy volunteers. We assessed postural control with clinical scores and biomechanical recordings during gait initiation. Read More

Rev Neurol (Paris) 2017 Jan - Feb;173(1-2):55-61. Epub 2017 Jan 31.

Département de neurologie, centre expert inter-régional de coordination de la maladie de Parkinson, groupe hospitalier Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France. Electronic address:

Introduction: In the absence of specific clinical signs, imaging or biomarkers, the differential diagnosis of degenerative parkinsonian syndromes may be difficult at early stages of the disease. To reduce the risk of misdiagnosis or delayed diagnosis and referral to multiple medical centers at disease onset, easier access to expert centers should be available. To improve the initial care of parkinsonian patients, the Parkinson's disease Expert Center (PEC) at Pitié-Salpêtrière Academic Hospital has set up a specific outpatients clinic with short waiting times dedicated to the diagnosis of early Parkinson's disease and related disorders. Read More

Hum Mutat 2017 May 25;38(5):556-568. Epub 2017 Feb 25.

Neuromuscular Disease Centre, Hôpital de la Pitié-Salpétrière, APHP, Paris, France.

In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functional consequences of newly discovered variants. Among 510 unrelated patients with distal motor neuropathy, we identified mutations in HSPB1 (28 index patients/510; 5.5%) and HSPB8 (four index patients/510; 0. Read More

Neurology 2017 Feb 27;88(9):853-861. Epub 2017 Jan 27.

From APHP (C.E., M.-L.W., B.D., M.V.), Département de neurologie, Hôpital Pitié-Salpêtrière; Sorbonne Universités (C.E., C.G., M.-L.W., L.Y.C., B.D., P.P., S.L., S.R.-P., M.V.), UPMC Université Paris 06, Inserm U1127, CNRS UMR 7225, UM 75, ICM; APHP (C.E., A.D., M.V.), INSERM, ICM, Centre d'Investigation Clinique Pitié Neurosciences, CIC-1422, Département des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière; Equipex MATRICE (S.M.), Université Paris 1 Panthéon-Sorbonne; Centre de Neuroimagerie de Recherche (C.G., L.Y.C., S.L.), Institut du Cerveau et de la Moelle Epinière; Centre Inter-Régional de Coordination de la Maladie de Parkinson (M.-L.W., B.D., M.V.) and Département de Neurophysiologie clinique (B.G.), Hôpital Pitié-Salpêtrière; Inserm UMR-S 678 (H.B.), Laboratoire d'Imagerie Fonctionnelle, UPMC-Paris 6, Paris; and CEA (C.P.), NeuroSpin, Gif-Sur-Yvette, France.

Objective: To describe the relation between gaze and posture/gait control in Parkinson disease (PD) and to determine the role of the mesencephalic locomotor region (MLR) and cortex-MLR connection in saccadic behavior because this structure is a major area involved in both gait/postural control and gaze control networks.

Methods: We recruited 30 patients with PD with or without altered postural control and 25 age-matched healthy controls (HCs). We assessed gait, balance, and neuropsychological status and separately recorded gait initiation and eye movements (visually guided saccades and volitional antisaccades). Read More

J Cutan Pathol 2017 May 16;44(5):470-473. Epub 2017 Feb 16.

Dermatopathology Division, Department of Pathology, Sylvester Comprehensive Cancer Center, Miami, Florida.

Morbihan disease, also referred to as solid facial edema, or rosacea lymphedema, is a rare disorder that involves chronic erythema and solid edema of the cheeks, eyelids, forehead and glabella and may arise as a complication of acne vulgaris or rosacea. Of note, it may be the only initial presenting symptom of these associated diseases. Few cases have been described in the literature, as its first description by Robert Degos in 1957. Read More

Neurology 2017 Feb 11;88(6):543-550. Epub 2017 Jan 11.

From the Departments of Neurology (S.P.R., A.R.W., A.D.) and Family and Community Medicine (B.S.), University of New Mexico Health Sciences Center, Albuquerque; and Departments of Neurology, Human Genetics, and Pediatrics (H.A.J.), Emory University School of Medicine, Atlanta, GA.

Objective: To determine the frequency of medication use in patients with dystonia enrolled in an international biorepository study.

Methods: In a cross-sectional analysis, we included 2,026 participants enrolled at 37 sites in the United States, Canada, Europe, and Australia through Project 1 of the Dystonia Coalition, an international biorepository study. The primary aim was to assess the frequency of medication classes recommended for treating patients with dystonia, and the secondary aim was to compare characteristics (disease type, age, sex, duration of disease, comorbid conditions, severity). Read More

Chin Med J (Engl) 2016 12;129(23):2834-2839

Department of Dermatology, Peking University People's Hospital, Beijing 100044, China.

Background: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. Read More

Obstet Med 2016 Dec 1;9(4):167-168. Epub 2016 Jun 1.

Division of Rheumatology, MassGeneral Hospital for Children and Harvard Medical School, Boston, MA, USA; Heritage Provider Network, Los Angeles, CA, USA.

Degos disease is characterized as a rare systemic vaso-occlusive disorder, although the exact pathophysiology is uncertain. Fewer than 200 patients have been reported in the literature, and only two reports describe the course of the disease during pregnancy. Here, we present the first reported case of the course of pregnancy in a woman with the systemic form of Degos disease. Read More

J Eur Acad Dermatol Venereol 2016 Oct 20;30(10):e79-e81. Epub 2015 Oct 20.

Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Jiangsu, China.

J Am Acad Dermatol 2016 Dec 4;75(6):1274-1277. Epub 2016 Oct 4.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

KEY TEACHING POINTS. Read More

Indian J Dermatol 2016 Sep-Oct;61(5):572-4

Department of Medicine, Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India.

Indian J Dermatol Venereol Leprol 2016 Nov-Dec;82(6):720-723

Department of Dermatology, Seth GSMC and KEM Hospital, Mumbai, Maharashtra, India.

Dermatol Ther (Heidelb) 2016 Dec 9;6(4):471-507. Epub 2016 Sep 9.

Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.

Over the last few years, dermoscopy has been shown to be a useful tool in assisting the noninvasive diagnosis of various general dermatological disorders. In this article, we sought to provide an up-to-date practical overview on the use of dermoscopy in general dermatology by analysing the dermoscopic differential diagnosis of relatively common dermatological disorders grouped according to their clinical presentation, i.e. Read More

PLoS One 2016;11(9):e0162937. Epub 2016 Sep 8.

[This corrects the article DOI: 10.1371/journal.pone. Read More

J Dtsch Dermatol Ges 2016 Aug 9;14(8):839-40. Epub 2016 Aug 9.

Department of Dermatology, University Hospital Jena, Jena, Germany.

Br J Dermatol 2017 Jan 24;176(1):270-274. Epub 2016 Sep 24.

Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.

Nat Chem Biol 2016 Sep 18;12(9):735-40. Epub 2016 Jul 18.

Biology Department, Brookhaven National Laboratory, Upton, New York, USA.

Rumi O-glucosylates the EGF repeats of a growing list of proteins essential in metazoan development, including Notch. Rumi is essential for Notch signaling, and Rumi dysregulation is linked to several human diseases. Despite Rumi's critical roles, it is unknown how Rumi glucosylates a serine of many but not all EGF repeats. Read More

PLoS One 2016 12;11(7):e0158235. Epub 2016 Jul 12.

Assistance Publique Hôpitaux de Paris (APHP), UPMC, INSERM, ICM, Centre d'Investigation Clinique Pitié Neurosciences, CIC-1422, Département des Maladies du Système Nerveux, Hôpital Pitié-Salpêtrière, Paris, France.

Trial Registration: ClinicalTrials.gov NCT01341431. Read More

Int J Dermatol 2016 Nov;55(11):1205-1209

ExpressMed Laboratories, Kingdom of Bahrain.

Background: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare fulminant variant of pityriasis lichenoides et varioliformis acuta (PLEVA) characterized by a rapidly progressive course with predominant ulceronecrotic lesions associated with fever and systemic manifestations. First described by Degos in 1966, it carries a high morbidity and is potentially fatal. The exact pathogenesis is not clear, but it is proposed to be the result of hypersensitivity reaction to an infection. Read More

J Neurosci 2016 Jun;36(25):6623-33

Motivation, Brain and Behavior Team, Institut du cerveau et de la Moelle Epinière, INSERM UMR1127, CNRS UMR 7225, Université Pierre et Marie Curie-Paris 6,

Unlabelled: Motor dysfunction (e.g., bradykinesia) and motivational deficit (i. Read More

Brain 2016 Aug 21;139(Pt 8):2182-97. Epub 2016 Jun 21.

2 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Paris, France 3 CNRS, UMR 7225, Paris, France 4 Inserm, U 1127, Paris, France 8 AP-HP, Hôpital de la Pitié Salpêtrière, Département de Neurologie, Paris, France.

SEE MUTHURAMAN ET AL DOI101093/AWW164 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Primary orthostatic tremor is characterized by high frequency tremor affecting the legs and trunk during the standing position. Cerebellar defects were suggested in orthostatic tremor without direct evidence. We aimed to characterize the anatomo-functional defects of the cerebellar motor pathways in orthostatic tremor. Read More

Angiogenesis 2016 Oct 20;19(4):451-61. Epub 2016 Jun 20.

Department of Anesthesia and Perioperative Care, Center for Cerebrovascular Research, University of California, San Francisco, 1001 Potrero Avenue, Box 1363, San Francisco, CA, 94143, USA.

An abnormally high number of macrophages are present in human brain arteriovenous malformations (bAVM) with or without evidence of prior hemorrhage, causing unresolved inflammation that may enhance abnormal vascular remodeling and exacerbate the bAVM phenotype. The reasons for macrophage accumulation at the bAVM sites are not known. We tested the hypothesis that persistent infiltration and pro-inflammatory differentiation of monocytes in angiogenic tissues increase the macrophage burden in bAVM using two mouse models and human monocytes. Read More

Orphanet J Rare Dis 2016 Apr 16;11:41. Epub 2016 Apr 16.

AP-HP, UF Neurométabolique Bioclinique et Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Read More

Ann Dermatol Venereol 2016 Jun-Jul;143(6-7):446-52. Epub 2016 Apr 6.

Clinique dermatologique, hôpitaux universitaires de Strasbourg, BP 426, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.

Background: Terra firma-forme dermatosis was first described in 1987. It is characterized by the appearance in children or adolescents of dirt-like patches despite normal cleansing. The lesions are removed when the skin is rubbed with a 70°C alcohol swab. Read More

J Neurol 2016 Jun 8;263(6):1111-9. Epub 2016 Apr 8.

Department of Medical Pharmacology, INSERM U1171, Lille University, CHU Lille, 2, avenue Oscar Lambret, 59037, Lille, France.

To report on OPTIPUMP, a cohort study, investigating the impact in real-life clinical settings of continuous subcutaneous apomorphine infusion (CSAI) on the quality of life (HRQoL) of patients with Parkinson's disease. OPTIPUMP was a prospective, open-label, observational cohort study involving 30 investigational sites in France. CSAI was proposed as part of routine clinical care to patients aged ≥18 years, in absence of dementia, with a PD diagnosis and based on the presence of motor fluctuations not controlled by oral treatments. Read More

Indian Dermatol Online J 2016 Mar-Apr;7(2):99-102

Department of Pathology, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital (SDMCMS and H), Dharwad, Karnataka, India.

Dowling-Degos disease (DDD) is a rare autosomal dominant condition characterized by multiple, small, round pigmented macules usually arranged in reticular pattern, chiefly distributed in axillae and groins. Here we are reporting three atypical cases of DDD in a family. They had hypopigmented macules with typical features of DDD indicating generalized DDD. Read More

Parkinsonism Relat Disord 2016 05 2;26:78-80. Epub 2016 Mar 2.

Département des Maladies du Système Nerveux, Centre Inter-Régional de Coordination de la Maladie de Parkinson, Hôpital Pitié-Salpêtrière, APHP, Paris, 75013, France; Université Pierre et Marie Curie-Paris 6, Laboratoire de Biologie du Développement, UMR 7622, Paris, 75005, France; Centre National de la Recherche Scientifique, Laboratoire de Biologie du Développement, UMR 7622 Paris, 75005, France.

Indian Dermatol Online J 2016 Jan-Feb;7(1):32-5

Department of Dermatology, Chirayu Medical College and Hospital, Bhopal, Madhya Pradesh, India.

Dowling-Degos disease (DDD) and reticulate acropigmentation of Kitamura (RAK) are rare genodermatoses inherited as an autosomal dominant trait with variable penetrance. They are considered to be part of a spectrum of reticulate pigmentary dermatoses, characterized by the presence of hyperpigmented macules coalescing in a reticular fashion. The authors describe a 28-year-old male patient having hyperpigmented macules on the axillae, neck and face, reticulate acropigmentation of dorsum of the hands, forearms and feet, palmar pitting, and comedo-like lesions over back. Read More

Indian J Dermatol 2016 Jan-Feb;61(1):125

Department of Dermatology, Venereology and Leprosy, Seth GS Medical College and K.E.M Hospital, Mumbai, Maharashtra, India. E-mail:

Neurol Neuroimmunol Neuroinflamm 2016 Apr 2;3(2):e206. Epub 2016 Feb 2.

Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA.

J Dermatol 2016 Aug 19;43(8):963-5. Epub 2016 Feb 19.

Department of Dermatology, Kyoto Prefectural University of Medicine Graduate School of Medical Science, Kyoto, Japan.

Zhonghua Yi Xue Za Zhi 2015 Dec;95(46):3750-2

Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China.

Objective: To investigate the clinical presentation, histopathological features, progression, and treatment of lymphomatoid papulosis (LyP).

Methods: A retrospective review was performed on clinicopathological data of 22 patients diagnosed with LyP from June 2010 to March 2015 in Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College.

Result: The mean age of the 22 LyP patients was 39 years (range: 7-83 years). Read More

Pigment Cell Melanoma Res 2016 Mar;29(2):243-6

Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.

Clin Exp Dermatol 2016 Jun 18;41(4):410-2. Epub 2015 Dec 18.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, IN, USA.

We present a case of a patient with long-standing hyperpigmented macules and erythematous papules over his chest, abdomen, back and arms, suggestive of Dowling-Degos disease (DDD). In addition, there were hyperkeratotic papules, alternating red and white nail-bed discolouration, and V-shaped nail notching consistent with Darier disease (DD). Histology showed findings consistent with DDD and DD on separate specimens. Read More

Virulence 2016 25;7(1):33-44. Epub 2015 Nov 25.

a Centre d'Immunologie de Marseille-Luminy; Aix Marseille Université; CNRS UMR7280; INSERM U1104 ; Marseille , France.

Brucella is a Gram-negative bacterium responsible for brucellosis, a worldwide re-emerging zoonosis. Brucella has been shown to infect and replicate within Granulocyte macrophage colony-stimulating factor (GMCSF) in vitro grown bone marrow-derived dendritic cells (BMDC). In this cell model, Brucella can efficiently control BMDC maturation. Read More

PLoS One 2015 16;10(11):e0142838. Epub 2015 Nov 16.

Aix Marseille Université, CNRS, IBDM UMR 7288, Marseille, France.

Recent evidence points to a neuroprotective action of bee venom on nigral dopamine neurons in animal models of Parkinson's disease (PD). Here we examined whether bee venom also displays a symptomatic action by acting on the pathological functioning of the basal ganglia in rat PD models. Bee venom effects were assessed by combining motor behavior analyses and in vivo electrophysiological recordings in the substantia nigra pars reticulata (SNr, basal ganglia output structure) in pharmacological (neuroleptic treatment) and lesional (unilateral intranigral 6-hydroxydopamine injection) PD models. Read More

Handb Clin Neurol 2015 ;132:29-73

Department of Neurology, Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA. Electronic address:

A variety of neurologic diseases have cutaneous manifestations. These may precede, coincide with, or follow the neurologic findings. An array of autoimmune, genetic, and environmental factors play a role in expression and severity of the neurologic burden in these conditions. Read More

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

Objective: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship.

Methods: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. Read More