The cerebellum : disorders and treatment / edited by Mario Manto and Thierry A. G. M. Huisman.

Format:

Book

Contributor:

Manto, Mario, editor.

Huisman, Thierry A. G. M., editor.

Series:

Handbook of clinical neurology ; Volume 155.

Handbook of Clinical Neurology ; Volume 155

Language:

English

Subjects (All):

Cerebellum--Diseases.

Cerebellum.

Neurology.

Physical Description:

1 online resource (xiii, 424 pages) : illustrations.

Place of Publication:

Amsterdam, Netherlands : Elsevier, [2018]

Summary:

The Cerebellum: Disorders and Treatment, Volume 155 updates readers on the latest and clinically relevant advances in the study of cerebellar diseases in children and adults. It is organized into sections detailing: (1) Disorders (starting from the fetal cerebellum, to adult cerebellum) encountered during daily practice, and (2) Therapy (including insights into innovative drug and rehabilitative approaches). The book's innovative structure discusses cerebellar disorders in children and adults as a continuum, with its companion volume, The Cerebellum: From Embryology to Diagnostic Investigations detailing embryology, anatomy, function and diagnostic investigations and neuroimaging, including conventional sequences, diffusion tensor imaging, functional MRI, and connectivity studies.- Provides an in-depth understanding of the cerebellum and its involvement in a wide variety of diseases- Explores long-term outcome data of pediatric cerebellar diseases and potential problems in adult life for patients with pediatric cerebellar diseases- Features chapters co-authored by two experts, combining expertise in both pediatric and adult cerebellar diseases

Contents:

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

Complications

Conclusion

Chapter 3: Cerebellar injury in preterm infants

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

Chapter 4: Cerebellar involvement in autism and ADHD

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

Chapter 5: Recessive ataxias

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

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)

Chapter 7: Nonsyndromic cerebellar ataxias associated with disorders of DNA single-strand break repair

Mechanisms of dna single-strand break repair.

Ataxia with oculomotor apraxia type 1 (AOA1, AOA-APTX): MIM 208920)

Genetics

Genotype-phenotype correlations

Molecular defects

Spinocerebellar ataxia with axonal neuropathy (scan1): MIM 607250)

Genetics and molecular defects

Ataxia with oculomotor apraxia type 4 (AOA4, AOA-PNKP: MIM 616267)

Ataxia with ocular motor apraxia-XRCC1 (AOA-XRCC1

AOA5)

Chapter 8: Metabolic ataxias

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

Alexander disease

Succinic semialdehyde dehydrogenase (SSADH) deficiency

Niemann-Pick type C (NPC)

Propionic acidemia and methylmalonic aciduria

Infantile neuronal ceroid lipofuscinosis (NCL)

Peroxisome biogenesis disorders

Mitochondrial disorders

Acquired metabolic cerebellar ataxias

Alcohol-related cerebellar ataxias

Pathogenesis

Diagnosis and therapy

Vitamin B1 deficiency (Wernicke encephalopathy)

Iron deposition: superficial siderosis

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

Chapter 10: Spinocerebellar ataxias

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.

Notes:

Description based on print version record.

ISBN:

9780444641908

0444641904

9780444641892

0444641890