What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

(2018) Tessa van Dijk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Prenatal cerebellar growth trajectories and the impact of periconceptional maternal and fetal factors

(2017) I.V. Koning et al.   HUMAN REPRODUCTION

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

(2017) Rea M Lardelli et al.   NATURE GENETICS

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

(2017) Janbernd Kirschner et al.   NEUROPEDIATRICS

Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome inS. cerevisiae

(2017) Abby Gillespie et al.   RNA

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

(2016) Martin W. Breuss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype ofITPR1-related spinocerebellar ataxia's

(2016) Tessa van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

(2016) Jijun Wan et al.   BRAIN

RELNandVLDLRmutations underlie two distinguishable clinico-radiological phenotypes

(2016) S. Valence et al.   CLINICAL GENETICS

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

(2016) Efterpi Pavlidou et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast

(2016) Milo B. Fasken et al.   GENETICS

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations

(2016) Kazuhiro Iwama et al.   JOURNAL OF HUMAN GENETICS

Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability

(2016) Asem M. Alkhateeb et al.   METABOLIC BRAIN DISEASE

Novel motor phenotypes in patients withVRK1mutations without pontocerebellar hypoplasia

(2016) Marion Stoll et al.   NEUROLOGY

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

(2016) S. Lühl et al.   Orphanet Journal of Rare Diseases

Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast

(2016) Milo B. Fasken et al.   GENETICS

Targeted carrier screening for four recessive disorders: High detection rate within a founder population

(2015) Inge B. Mathijssen et al.   European Journal of Medical Genetics

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

(2015) Zejuan Li et al.   JOURNAL OF HUMAN GENETICS

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to NovelRARS2Mutations

(2015) Nichola Z. Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-  Precursor Protein-Dependent Mechanism

(2015) H. Vinograd-Byk et al.   JOURNAL OF NEUROSCIENCE

Infantile spinocerebellar ataxia type 7: Case report and a review of the literature

(2015) Karina Carvalho Donis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Loss of PCLO function underlies pontocerebellar hypoplasia type III

(2015) M. Y. Ahmed et al.   NEUROLOGY

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

(2015) Nicole Wolf et al.   NEUROPEDIATRICS

Phenotypic and molecular insights into CASK-related disorders in males

(2015) Ute Moog et al.   Orphanet Journal of Rare Diseases

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle

(2015) Lara Cantarero et al.   Scientific Reports

The genetics of lissencephaly

(2014) Andrew E. Fry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

(2014) Andrea Poretti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

(2014) Ender Karaca et al.   CELL

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

(2014) Ashleigh E. Schaffer et al.   CELL

Developmental Cerebellar Cognitive Affective Syndrome in Ex-preterm Survivors Following Cerebellar Injury

(2014) Marie Brossard-Racine et al.   CEREBELLUM

VPS53mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

(2014) Miora Feinstein et al.   JOURNAL OF MEDICAL GENETICS

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

(2014) Ayelet Halevy et al.   JOURNAL OF NEUROLOGY

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

(2014) Jeffrey T. Joseph et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Natural course of pontocerebellar hypoplasia type 2A

(2014) Iciar Sánchez-Albisua et al.   Orphanet Journal of Rare Diseases

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

(2014) Veerle RC Eggens et al.   Orphanet Journal of Rare Diseases

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

(2014) Marie-Lorraine Monin et al.   Orphanet Journal of Rare Diseases

Genetic Cerebellar Ataxias

(2014) Elsdon Storey   SEMINARS IN NEUROLOGY

Congenital Disorders of Glycosylation with Emphasis on Cerebellar Involvement

(2014) Rita Barone et al.   SEMINARS IN NEUROLOGY

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

(2014) Veronika Boczonadi et al.   Nature Communications

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

(2013) Komudi Siriwardena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

(2013) K. Kastrissianakis et al.   ARCHIVES OF DISEASE IN CHILDHOOD

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

(2013) Naiara Akizu et al.   CELL

Synaptic requiem: a duet for Piccolo and Bassoon

(2013) Natalia Kononenko et al.   EMBO JOURNAL

Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation

(2013) Clarissa L Waites et al.   EMBO JOURNAL

Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations

(2013) Tatjana Bierhals et al.   European Journal of Medical Genetics

Whole-genome screening identifies proteins localized to distinct nuclear bodies

(2013) Ka-wing Fong et al.   JOURNAL OF CELL BIOLOGY

Infantile Onset Spinocerebellar Ataxia 2 (SCA2)

(2013) Ankur Singh et al.   JOURNAL OF CHILD NEUROLOGY

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

(2013) S. Rudnik-Schoneborn et al.   NEUROLOGY

An interplay between transcription, processing, and degradation determines tRNA levels in yeast

(2013) Dominika Wichtowska et al.   Wiley Interdisciplinary Reviews-RNA

The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

(2012) P. Feraco et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

(2012) Ganeshwaran H Mochida et al.   NATURE GENETICS

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2

(2012) Dimitrios I. Zafeiriou et al.   NEUROMUSCULAR DISORDERS

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

(2012) Lydie Burglen et al.   Orphanet Journal of Rare Diseases

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

(2011) Christopher Anderson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Roles of VRK1 as a new player in the control of biological processes required for cell division

(2011) Alberto Valbuena et al.   CELLULAR SIGNALLING

TSEN54 mutations cause pontocerebellar hypoplasia type 5

(2011) Yasmin Namavar et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4

(2011) Laura I. Rudaks et al.   PEDIATRIC NEUROLOGY

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

(2010) Orly Agamy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

(2010) John M. Graham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

(2009) Stephanie Grünewald   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

(2009) Anna Hackett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cerebellum of the Premature Infant: Rapidly Developing, Vulnerable, Clinically Important

(2009) Joseph J. Volpe   JOURNAL OF CHILD NEUROLOGY

Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings

(2009) B. Durmaz et al.   JOURNAL OF NEUROLOGY

The Human SepSecS-tRNASec Complex Reveals the Mechanism of Selenocysteine Formation

(2009) S. Palioura et al.   SCIENCE

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

(2009) Xavier H. Jaglin et al.   TRENDS IN GENETICS

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

(2008) Emma Clement et al.   ANNALS OF NEUROLOGY

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

(2008) Birgit S Budde et al.   NATURE GENETICS

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

(2008) Juliane Najm et al.   NATURE GENETICS

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)

(2007) Peter G. Barth et al.   NEUROMUSCULAR DISORDERS