Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

Friedreich's Ataxia and Scoliosis

(2011) Todd A. Milbrandt et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Hereditary Episodic Ataxias

(2009) Joanna C. Jen   Annals of the New York Academy of Sciences

Brain MRI Abnormalities in Ataxia-Telangiectasia

(2009) Mario Habek et al.   NEUROLOGIST

Schizophrenia in a Patient With Spinocerebellar Ataxia 2: Coincidence of Two Disorders or a Neurodegenerative Disease Presenting With Psychosis?

(2008) Matthew Rottnek et al.   AMERICAN JOURNAL OF PSYCHIATRY

Muscle Excitability Abnormalities in Machado-Joseph Disease

(2008) Marcondes C. França et al.   ARCHIVES OF NEUROLOGY

Impaired Eye Movements in Presymptomatic Spinocerebellar Ataxia Type 6

(2008) Peka Christova et al.   ARCHIVES OF NEUROLOGY

Spastic paraparesis as the onset manifestation of spinocerebellar ataxia type 7

(2008) Salomão da Cunha Linhares et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Spinocerebellar ataxia type 6 in Brazil

(2008) Hélio A.G. Teive et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Targeting the gene in Friedreich ataxia

(2008) Michael D. Hebert   BIOCHIMIE

Oculomotor abnormalities in myoclonic tremor: a comparison with spinocerebellar ataxia type 6

(2008) L. J. Bour et al.   BRAIN

SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology

(2008) Wei-Lun Chen et al.   BRAIN RESEARCH

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

Magnetic resonance imaging in spinocerebellar ataxias

(2008) Susanne Döhlinger et al.   CEREBELLUM

Clinical and genetic analysis of spinocerebellar ataxia type 11

(2008) Janel Johnson et al.   CEREBELLUM

The clinical diagnosis of autosomal dominant spinocerebellar ataxias

(2008) Thomas Klockgether   CEREBELLUM

Spinocerebellar ataxias caused by polyglutamine expansions: A review of therapeutic strategies

(2008) Benjamin R. Underwood et al.   CEREBELLUM

Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)

(2008) Giovanni Stevanin et al.   CEREBELLUM

Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes

(2008) Yoshio Ikeda et al.   CEREBELLUM

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

(2008) J. Delplanque et al.   CEREBELLUM

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration

(2008) Gwenn A. Garden et al.   CEREBELLUM

SCA3: Neurological features, pathogenesis and animal models

(2008) Olaf Riess et al.   CEREBELLUM

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

(2008) Caterina Mariotti et al.   CEREBELLUM

Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis

(2008) Li-Ching Lee et al.   CLINICA CHIMICA ACTA

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

(2008) E. R. Staples et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG

(2008) Shiroh Miura et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

CTA/CTG expansions at the SCA 8 locus in multiple system atrophy

(2008) Renato P. Munhoz et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

An update on inherited ataxias

(2008) Tanja Schmitz-Hübsch et al.   Current Neurology and Neuroscience Reports

The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle

(2008) Sharon Biton et al.   DNA REPAIR

DNA triplexes and Friedreich ataxia

(2008) Robert D. Wells   FASEB JOURNAL

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

(2008) M. A. Knight et al.   HUMAN MOLECULAR GENETICS

Enzymological Analysis of Mutant Protein Kinase Cγ Causing Spinocerebellar Ataxia Type 14 and Dysfunction in Ca2+Homeostasis

(2008) Naoko Adachi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Spinocerebellar Ataxia 12 Gene Product and Protein Phosphatase 2A Regulatory Subunit Bβ2 Antagonizes Neuronal Survival by Promoting Mitochondrial Fission

(2008) Ruben K. Dagda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

PKC  mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling

(2008) D. S. Verbeek et al.   JOURNAL OF CELL SCIENCE

Premutations in theFMR1Gene Are Uncommon in Men Undergoing Genetic Testing for Spinocerebellar Ataxia

(2008) Sara A. Adams et al.   JOURNAL OF NEUROGENETICS

“Pseudodominant inheritance” of ataxia with ocular apraxia type 2 (AOA2)

(2008) L. Schöls et al.   JOURNAL OF NEUROLOGY

Cognitive and social cognitive functioning in spinocerebellar ataxia

(2008) P. Garrard et al.   JOURNAL OF NEUROLOGY

Buspirone and serotonin in spinocerebellar ataxia

(2008) José Gazulla et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion

(2008) Keiko Ohnari et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6

(2008) Y. Kawai et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spinocerebellar ataxias types 1, 2 and 3: Age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths

(2008) M. Netravathi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6

(2008) Christoph Globas et al.   MOVEMENT DISORDERS

Very-late-onset Friedreich ataxia with disturbing head tremor and without spinal atrophy-A case report

(2008) Aekaterini Galimanis et al.   MOVEMENT DISORDERS

Mutant γPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells

(2008) Takahiro Seki et al.   NEUROBIOLOGY OF DISEASE

Mitochondrial tRNALeu/Lys and ATPase 6/8 Gene Variations in Spinocerebellar Ataxias

(2008) Sepideh Safaei et al.   Neurodegenerative Diseases

Brain white matter tracts degeneration in Friedreich ataxia. An in vivo MRI study using tract-based spatial statistics and voxel-based morphometry

(2008) Riccardo Della Nave et al.   NEUROIMAGE

Spinocerebellar ataxias

(2008) Mario Mascalchi   NEUROLOGICAL SCIENCES

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

(2008) K. Hara et al.   NEUROLOGY

Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7)

(2008) F. Hoche et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Pyruvate Dehydrogenase Deficiency Presenting as Intermittent Isolated Acute Ataxia

(2008) F.-G. Debray et al.   NEUROPEDIATRICS

Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia

(2008) Yan Lin et al.   NEUROSCIENCE LETTERS

Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3

(2008) Daniel R. Carvalho et al.   PEDIATRIC NEUROLOGY

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Allele-Specific RNA Silencing of Mutant Ataxin-3 Mediates Neuroprotection in a Rat Model of Machado-Joseph Disease

(2008) Sandro Alves et al.   PLoS One

The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation

(2008) M. Whitnall et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8

(2007) Neeraj Kumar et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Hypertrophic cardiomyopathy in Friedreich's ataxia

(2007) A. Fayssoil et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa

(2007) Josef Finsterer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spinocerebellar ataxia type 7 mimicking Kearns–Sayre syndrome: A clinical diagnosis is desirable

(2007) Surya N. Gupta et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases

(2007) Chin-San Liu et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments

(2007) U. Rüb et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY