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Multisystem atrophy

Nisha Patel, Deepti Anand, Dorota Monies, Sateesh Maddirevula, Arif O Khan, Talal Algoufi, Mohammed Alowain, Eissa Faqeih, Muneera Alshammari, Ahmed Qudair, Hadeel Alsharif, Fatimah Aljubran, Hessa S Alsaif, Niema Ibrahim, Firdous M Abdulwahab, Mais Hashem, Haifa Alsedairy, Mohammed A Aldahmesh, Salil A Lachke, Fowzan S Alkuraya
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing on unselected cohort of pediatric cataract (166 patients from 74 families). Mutations in previously reported cataract genes were identified in 58% for a total of 43 mutations, including 15 that are novel. GEMIN4 was independently mutated in families with a syndrome of cataract, global developmental delay with or without renal involvement...
November 22, 2016: Human Genetics
Luigi Ferini-Strambi, Sara Marelli, Romina Combi
Multiple system atrophy (MSA) is a neurodegenerative disease characterized by a combination of autonomic failure, parkinsonism, and/or cerebellar ataxia. The cause of MSA is unknown, but neuropathologically the disease is characterized by widespread α-synuclein-positive glial cytoplasmic inclusions and striatonigral and/or olivopontocerebellar neurodegeneration. Two motor phenotypes have been clinically identified: parkinsonian (MSA-P) and cerebellar (MSA-C). In order to elucidate if in addition to the motor abnormalities there are other significant differences between these two phenotypes, we performed a review of the studies on sleep disorders in the two MSA subtypes...
December 2016: Current Neurology and Neuroscience Reports
Arsida Bajrami, Filiz Azman, Vildan Yayla, Sultan Cagirici, Cahit Keskinkiliç, Nejla Sozer
Myotonic dystrophy type 1 (DM1) is a progressive multisystemic disease with common cognitive deficits and potential brain involvement in addition to the cardinal muscular and systemic symptoms. Impaired mental function associated with nonspecific pathological findings such as white-matter hyperintense lesions (WMHLs), ventricular enlargement and brain atrophy on brain MRI have been previously reported in DM1 patients. While some studies showed correlation of brain morphological changes with neuropsychological and clinical parameters including CTG repeat sizes and disease severity scales in DM1, others failed...
November 11, 2016: Neuroradiology Journal
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
Loïc Le Guennec, Nadine Martin-Duverneuil, Karima Mokhtari, Maria Santiago-Ribeiro, Eléonore Bayen, Antoine Del Cul, Daniel Delgadillo, Aurélie Kas, Carine Courtillot, Julien Haroche, Fleur Cohen, Jean Donadieu, Khê Hoang-Xuan, Ahmed Idbaih
Langerhans cell histiocytosis (LCH) is a rare multisystemic disease. LCH is characterized by proliferation of myeloid progenitors with altered differentiation program and similar phenotypic features to epidermal dendritic cells termed Langerhans cell. LCH cells express CD1a+ and langerin and exhibit BRAF V600E mutation in ∼50% of cases. Neurological involvement or neuro-LCH is observed in 5 to 10% of cases. Three subtypes of neuro-LCH are individualized. The tumor type, accounting for 45% of neuro-LCH, affect mainly young adults...
November 2, 2016: La Presse Médicale
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
October 19, 2016: European Journal of Human Genetics: EJHG
Alison K Thomson, Eilidh Somers, Rachael A Powis, Hannah K Shorrock, Kelley Murphy, Kathryn J Swoboda, Thomas H Gillingwater, Simon H Parson
Spinal muscular atrophy (SMA), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe infantile form of SMA (Type I SMA) is now widely recognised to represent a multisystem disorder where a variety of organs and systems in the body are also affected. Here, we report that the spleen is disproportionately small in the 'Taiwanese' murine model of severe SMA (Smn(-/-) ;SMN2(tg/0) ), correlated to low levels of cell proliferation and increased cell death...
October 11, 2016: Journal of Anatomy
Na Niu, Xinxin Cao, Ruixue Cui
Cervical and lumbosacral nerve roots and plexus involvement in Erdheim-Chester disease (ECD) is rare. A 50-year-old man with progressive edema in bilateral lower extremities, numbness, weakness, and muscle atrophy of upper limb for 2 years had been misdiagnosed of neuritis or cervical spondylosis until he presented bone pain. In addition to bilateral symmetric involvement in long bones, bilateral hypermetabolism in cervical and lumbosacral nerve roots was found by FDG PET/CT scan. ECD was diagnosed by bone biopsy...
November 2016: Clinical Nuclear Medicine
Elzbieta Szmidt-Salkowska, Malgorzata Gawel, Zygmunt Jamrozik, Joanna Salkowska-Wanat, Damian Gawel, Anna Kaminska
UNLABELLED: Abnormal blink reflex (BR) is a result of reticular brainstem pathways dysfunction and seems to be one of the features of brain degenerative disorders. The aim of the study was to estimate the diagnostic value of blink reflex in neurodegenerative diseases such as: multisystem atrophy (MSA), progressive supranuclear palsy (PSP) and Parkinson disease (PD). Material consisted of 99 patients with clinically probable MSA (51), PSP (28) and PD (20). MSA patients were divided into two subgroups, with dominant cerebellar (MSA-C) and parkinsonian signs (MSA-P)...
2016: Neurologia i Neurochirurgia Polska
Sarah B Pierce, Suleyman Gulsuner, Gail A Stapleton, Tom Walsh, Ming K Lee, Jessica B Mandell, Augusto Morales, Rachel E Klevit, Mary-Claire King, R Curtis Rogers
Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well as milder and more severe phenotypes. We present a 13-year-old girl with ataxia, severe hearing loss, optic atrophy, peripheral neuropathy, and hypergonadotropic hypogonadism. Whole-exome sequencing revealed that the patient is compound heterozygous for previously unreported variants in the C10orf2 gene: a paternally inherited frameshift variant (c...
July 2016: Cold Spring Harbor Molecular Case Studies
Meera C Viswanathan, Anna C Blice-Baum, Tzu-Kang Sang, Anthony Cammarato
Valosin-containing protein (VCP) is a highly conserved mechanoenzyme that helps maintain protein homeostasis in all cells and serves specialized functions in distinct cell types. In skeletal muscle, it is critical for myofibrillogenesis and atrophy. However, little is known about VCP's role(s) in the heart. Its functional diversity is determined by differential binding of distinct cofactors/adapters, which is likely disrupted during disease. VCP mutations cause multisystem proteinopathy (MSP), a pleiotropic degenerative disorder that involves inclusion body myopathy...
June 2016: Journal of Cardiovascular Development and Disease
Bianca Hartmann, Timothy Wai, Hao Hu, Thomas MacVicar, Luciana Musante, Björn Fischer-Zirnsak, Werner Stenzel, Ralph Gräf, Lambert van den Heuvel, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Thomas Langer, Angela M Kaindl
Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein...
2016: ELife
Amal Al Teneiji, Komudi Siriwardena, Kristen George, Seema Mital, Saadet Mercimek-Mahmutoglu
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. We present a new patient with a novel pathogenic variant in DNAJC19 with novel neuroimaging finding of progressive cerebellar atrophy. PATIENT DESCRIPTION AND RESULTS: We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy...
September 2016: Pediatric Neurology
R Ennaifer, L Ben Farhat, M Cheikh, H Romdhane, Ines Marzouk, N Belhadj
INTRODUCTION: Alagille syndrome is a multisystem autosomal disorder. The main clinical features are chronic cholestasis due to paucity of intrahepatic bile ducts, which can progress to cirrhosis and liver failure. PRESENTATION OF CASE: A 15 year-old girl with Alagille syndrome was referred for liver transplantation. She developed severe cirrhosis with refractory ascites. In the pre-transplant evaluation, imaging studies disclosed liver atrophy with a high density pseudotumor in the segment 4, raising the possibility of a hepatocellular carcinoma...
2016: International Journal of Surgery Case Reports
Paolo Eusebi, David Giannandrea, Leonardo Biscetti, Iosief Abraha, Davide Chiasserini, Massimiliano Orso, Paolo Calabresi, Lucilla Parnetti
INTRODUCTION: The diagnostic criteria currently used for Parkinson's disease (PD) are mainly based on clinical motor symptoms. For these reasons many biomarkers are under investigation to support the diagnosis at the early stage. The neuropathological hallmark of PD is represented by Lewy bodies (LBs), which are intracytoplasmic inclusions in substantia nigra neurons. The major component of LBs, α-synuclein (α-syn), has been implicated in the pathogenesis of PD and in other 'synucleinopathies' such as multisystem atrophy (MSA) and dementia with LBs (DLBs)...
2016: BMJ Open
Mathilde Renaud, Claire Guissart, Martial Mallaret, Sacha Ferdinandusse, David Cheillan, Nathalie Drouot, Jean Muller, Mireille Claustres, Christine Tranchant, Mathieu Anheim, Michel Koenig
Peroxisomal biogenesis disorders (PBDs) consist of a heterogeneous group of autosomal recessive diseases, in which peroxisome assembly and proliferation are impaired leading to severe multisystem disease and early death. PBDs include Zellweger spectrum disorders (ZSDs) with a relatively mild clinical phenotype caused by PEX1, (MIM# 602136), PEX2 (MIM# 170993), PEX6 (MIM# 601498), PEX10 (MIM# 602859), PEX12 (MIM# 601758), and PEX16 (MIM# 603360) mutations. Three adult patients are reported belonging to a non-consanguineous French family affected with slowly progressive cerebellar ataxia, axonal neuropathy, and pyramidal signs...
August 2016: Journal of Neurology
Caroline A Fisher, Katherine Sewell, Amy Baker
Behcet's disease is a vasculitis and multisystem inflammatory syndrome. Neurological abnormalities occur in a subset of patients. This report presents a case of neuro-Behcet's disease characterized by an initial onset of behavior changes prior to diagnosis, which evolved into a chronic behavioral syndrome. Neuroimaging investigations revealed progressive periventricular white matter and brainstem atrophy and lesions in the basal ganglia and deep white matter tracts, while neuropsychological investigations revealed reductions in information processing, executive functioning, and memory...
June 2016: Neurocase
Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi Vici, Liesbeth Keldermans, Sandrine Vuillaumier-Barrot, Dirk J Lefeber, Renzo Guerrini
AIM: Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted diagnostic work-up. METHOD: Based on the initial observation of an index case with CDG and migrating partial seizures, we evaluated 16 additional children with CDG and analysed their clinical course, biochemical, genetic, electrographic, and imaging findings...
October 2016: Developmental Medicine and Child Neurology
Alyson L Hommel, Tamison Jewett, Megan Mortenson, James B Caress
INTRODUCTION: Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized. METHODS: We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome...
October 2016: Muscle & Nerve
Namita A Goyal, Tahseen Mozaffar
OBJECTIVE: Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS). METHODS: We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy. RESULTS: Both patients were confirmed to have transthyretin-related familial amyloid polyneuropathy (TTR-FAP) by genetic testing...
August 2015: Neurology. Genetics
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