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The cerebellum : disorders and treatment
- Available as
- Online
Details
- Creator
- edited by Mario Manto and Thierry A. G. M. Huisman
- Format
- Books
- Language
- English
- Contributors
- Publication
-
- Amsterdam, Netherlands : Elsevier, [2018]
- ©2018
- Physical Details
-
- 1 online resource (xiii, 424 pages) : illustrations
- ISBNs
- 9780444641908, 0444641904, 9780444641892, 0444641890
- Front Cover -- The cerebellum: Disorders and treatment -- Copyright -- Available titles -- Foreword -- Preface -- Contributors -- Contents -- Section I: Disorders -- Chapter 1: Fetal cerebellar disorders -- Normal prenatal development of the posterior fossa -- Neurosonography -- MRI -- The approach during the third trimester -- Prenatal Diagnosis Of Posterior Fossa Anomalies -- Dandy-Walker malformation (DWM) -- Posterior fossa fluid collections -- Mega cisterna magna -- Posterior fossa arachnoid cysts -- Blake's pouch cyst -- Cerebellar vermis hypoplasia -- Cerebellar hypoplasia -- Unilateral cerebellar hypoplasia (UCH) -- Pontocerebellar hypoplasia -- Rhombencephalosynapsis (RES) -- Joubert syndrome and related disorders -- Ethical And Medicolegal Aspects Of Counseling On Fetal Cerebellar Disorders -- References -- Chapter 2: Chiari 1 deformity in children: etiopathogenesis and radiologic diagnosis -- Introduction -- Definitions pertaining to the chiari 1 deformity: classification -- Development of the occipitocervical transition -- Clinical features of the chiari 1 deformity -- The neuroradiologic tools of diagnosis -- The bony landmarks of the CVJ (Table 2.2 and Fig. 2.2) -- The osteoneural landmarks of the CVJ -- The proportional integrity of the bony posterior fossa -- Diagnostic assessment of the chiari 1 deformity -- Abnormalities of the neuraxis -- Growth abnormalities of the cranium -- Growth abnormalities of the posterior fossa -- Shallowness of the posterior fossa -- Growth abnormalities of the whole cranium -- Iatrogenic craniocerebral disproportion -- Excessive tissue in the posterior fossa or entire skull -- Complex Chiari 1 deformities -- Proatlantal hypoplasia -- Segmentation disorders of the CVJ -- Differential diagnosis of Chiari 1 deformity -- Pseudotumor cerebri -- Chronic hydrocephalus -- Management -- Signs and symptoms
- Diagnostic studies -- Surgical technique -- Surgical technique -- Complications -- Conclusion -- References -- Chapter 3: Cerebellar injury in preterm infants -- Introduction -- Classification of cerebellar injury -- Primary cerebellar injury -- Cerebellar hemorrhage -- Etiology of cerebellar hemorrhage -- Distribution of cerebellar hemorrhage -- Outcome of cerebellar hemorrhage -- Cerebellar infarct -- Cerebellar hypoplasia of prematurity -- Etiology of cerebellar hypoplasia of prematurity -- Crossed cerebrocerebellar diaschisis -- Supratentorial hemorrhage -- Glucocorticoid exposure -- Opioids and pain -- Nutrition and somatic growth -- Cardiorespiratory instability -- Socioeconomic status -- Prognosis of cerebellar hypoplasia -- Summary and future directions -- References -- Chapter 4: Cerebellar involvement in autism and ADHD -- Introduction -- Motor impairment in ASD and ADHD -- Motor impairment in autism spectrum disorder -- Motor impairment in attention deficit-hyperactivity disorder -- Cerebellar pathology -- Cerebellar abnormalities in ASD postmortem studies -- Structural neuroimaging in ASD -- Cerebellar abnormalities in ADHD -- Lessons from preclinical models -- Cerebellar deficits in mouse models of ASD -- Cerebellar deficits in mouse models of ADHD -- Conclusions -- Acknowledgments -- References -- Chapter 5: Recessive ataxias -- Introduction -- Scars: a diversity of genes and pathways and the power of ngs -- The most frequent scars -- Friedreich ataxia -- Autosomal-recessive spastic ataxia of Charlevoix-Saguenay -- Spastic paraplegia type 7 -- Spectrin repeat-containing nuclear envelope protein 1 ataxia -- Ataxia telangiectasia -- Ataxia with oculomotor apraxia type 2 -- Polymerase gamma ataxia -- Ataxia with oculomotor apraxia type 1 -- Autosomal-recessive inheritance of genes known to cause autosomal-dominant ataxia -- AFG3L2 (SCA28)
- SPTBN2 (SCA5) -- ITPR1 (SCA29) -- OPA1 -- Diagnostic workup of early-onset ataxias: a clinical-genetic algorithm -- Treatment of scars -- Acknowledgments -- References -- Chapter 6: Nonprogressive congenital ataxias -- Definition -- Neuroimaging -- Clinical features -- Short- and long-term outcome -- Differential diagnosis and diagnostic workup -- Etiology and genetics -- Autosomal-dominant or recessive NPCA -- CACNA1A-related NPCA subtype of SCA6 (MIM#183086) -- KCNC3-related NPCA subtype of SCA13 (MIM#605269) -- ITPR1-related congenital ataxias: SCA29 (MIM#117360) and Gillespie syndrome (MIM#206700) -- VLDLR-related cerebellar ataxia: CAMRQ1 (MIM#224050) -- WDR81-related cerebellar ataxia: CAMRQ2 (MIM#610185) -- CA8-related cerebellar ataxia: CAMRQ3 (MIM#613227) -- ATP8A2-related cerebellar ataxia: CAMRQ4 (MIM#615268) -- PMPCA-associated cerebellar ataxia SCAR2 (MIM#613036) -- Cerebellar ataxia, infantile nonprogressive SCAR6 (MIM#608029) -- WWOX-related cerebellar ataxia, autosomal-recessive 12 -- SCAR12 (MIM#614322) -- GRM1-associated cerebellar ataxia SCAR13 (MIM#614831) -- SPTBN2-associated cerebellar ataxia SPARCA1/SCAR14 (MIM#615386) -- KIAA0226-related Salih ataxia SCAR15 (MIM#615705) -- Ionotropic glutamate receptor delta 2-associated cerebellar ataxia SCAR18 (MIM#616204) -- ATG5-related NPCA SCAR25 (MIM#617584) -- WDR73-related cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities: CAMOS (MIM#251300) -- CAMTA1-related cerebellar ataxia, nonprogressive, with mental retardation: CANPMR (MIM#614756) -- ATCAY-related cerebellar ataxia, Cayman type (MIM#601238) -- KCNJ10-related ataxia and EAST/SeSAME syndrome (MIM#612780) -- References -- Chapter 7: Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair -- Introduction -- Mechanisms of dna single-strand break repair
- Ataxia with oculomotor apraxia type 1 (AOA1, AOA-APTX): MIM 208920) -- Clinical features -- Genetics -- Genotype-phenotype correlations -- Molecular defects -- Spinocerebellar ataxia with axonal neuropathy (scan1): MIM 607250) -- Clinical features -- Genetics and molecular defects -- Ataxia with oculomotor apraxia type 4 (AOA4, AOA-PNKP: MIM 616267) -- Clinical features -- Genetics -- Genotype-phenotype correlations -- Ataxia with ocular motor apraxia-XRCC1 (AOA-XRCC1 -- AOA5) -- Clinical features -- Genetics -- Conclusions -- References -- Chapter 8: Metabolic ataxias -- Introduction -- Inherited disorders of metabolism with cerebellar involvement -- Diseases that affect the cerebellum prenatally -- Congenital disorders of glycosylation (CDG) -- Clinical presentation -- Diagnosis -- Therapy -- Diseases that affect the cerebellum postnatally -- Globoid cell leukodystrophy (GLD): Krabbe disease -- Clinical presentation -- Diagnosis -- Therapy -- Alexander disease -- Clinical presentation -- Diagnosis -- Therapy -- Succinic semialdehyde dehydrogenase (SSADH) deficiency -- Clinical presentation -- Diagnosis -- Therapy -- Niemann-Pick type C (NPC) -- Clinical presentation -- Diagnosis -- Therapy -- Propionic acidemia and methylmalonic aciduria -- Clinical presentation -- Diagnosis -- Therapy -- Infantile neuronal ceroid lipofuscinosis (NCL) -- Clinical presentation -- Diagnosis -- Therapy -- Peroxisome biogenesis disorders -- Clinical presentation -- Diagnosis -- Therapy -- Mitochondrial disorders -- Acquired metabolic cerebellar ataxias -- Alcohol-related cerebellar ataxias -- Pathogenesis -- Diagnosis and therapy -- Vitamin B1 deficiency (Wernicke encephalopathy) -- Pathogenesis -- Diagnosis and therapy -- Iron deposition: superficial siderosis -- Pathogenesis -- Diagnosis and therapy -- References -- Chapter 9: Mitochondrial ataxias -- Background
- Mitochondrial DNA -- General features of mitochondrial disease -- Ataxia associated with mitochondrial disease -- Imaging findings in associated mitochondrial ataxias -- Diseases, genetic basis, clinical features, and neuroimaging -- Myoclonic epilepsy with ragged red fibers -- Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes -- Neuropathy, ataxia, and retinitis pigmentosa -- Leber hereditary optic neuropathy -- Leigh disease -- Classic disorders of mtdna deletion and duplication with ataxia as a prominent feature -- Kearns-Sayre syndrome -- Chronic progressive external ophthalmoplegia -- Nuclear gene defects -- Genes encoding factors affecting mitochondrial DNA maintenance -- Multiple mtdna deletions: qualitative mtdna abnormalities -- Thymidine phosphorylase -- Twinkle (C10Orf2) -- mtDNA-dependent DNA polymerase, polymerase gamma -- mtDNA depletion: quantitative abnormalities -- OXPHOS function encoded in the nuclear genome -- Nuclear genes encoding polypeptides of the respiratory chain -- Genes encoding OXPHOS assembly factors -- Genes encoding biosynthetic enzymes for lipids or cofactors -- Factors indirectly related to mitochondrial oxidative phosphorylation -- Conclusion -- References -- Chapter 10: Spinocerebellar ataxias -- Introduction -- Historic perspective -- Well-characterized autosomal-dominant spinocerebellar ataxias and DRPLA -- Spinocerebellar ataxia type 1 -- Spinocerebellar ataxia type 2 -- Spinocerebellar ataxia type 3 -- Spinocerebellar ataxia type 4 -- Spinocerebellar ataxia type 5 -- Spinocerebellar ataxia type 6 -- Spinocerebellar ataxia type 7 -- Spinocerebellar ataxia type 8 -- Spinocerebellar ataxia type 9 -- Spinocerebellar ataxia type 10 -- Spinocerebellar ataxia type 12 -- Spinocerebellar ataxia type 14 -- Spinocerebellar ataxia type 17 -- Spinocerebellar ataxia type 19/22
- Spinocerebellar ataxia type 21