Biomaterial Database

New autosomal recessive cerebellar ataxias with oculomotor apraxia. 2005

Isabelle Le Ber, and Alexis Brice, and Alexandra Dürr

INSERM U679, Hôpital Pitié-Salpétriêre, 47 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.

Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia (AOA) has been delineated. It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The phenotypes share several similarities, and the responsible genes, ATM, MRE11, APTX, and SETX, respectively, are all implicated in DNA break repair. As in many other DNA repair deficiencies, neurodegeneration is a hallmark of these diseases. Recently, the genes for two new autosomal recessive cerebellar ataxias with oculomotor apraxia, AOA1 and AOA2, were identified. Here, we report the phenotypic characteristics, genetic characteristics, and the recent advances concerning AOA1 and AOA2.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D009687	Nuclear Proteins	Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.	Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D002524	Cerebellar Ataxia	Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)	Adiadochokinesis,Ataxia, Cerebellar,Cerebellar Dysmetria,Dysmetria,Cerebellar Hemiataxia,Cerebellar Incoordination,Hypermetria,Adiadochokineses,Ataxias, Cerebellar,Cerebellar Ataxias,Cerebellar Dysmetrias,Cerebellar Hemiataxias,Cerebellar Incoordinations,Dysmetria, Cerebellar,Dysmetrias,Dysmetrias, Cerebellar,Hemiataxia, Cerebellar,Hemiataxias, Cerebellar,Hypermetrias,Incoordination, Cerebellar,Incoordinations, Cerebellar
D004268	DNA-Binding Proteins	Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.	DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015835	Ocular Motility Disorders	Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)	Brown Syndrome,Brown Tendon Sheath Syndrome,Brown's Syndrome,Convergence Insufficiency,Eye Movement Disorders,Internuclear Ophthalmoplegia,Ocular Torticollis,Opsoclonus,Parinaud Syndrome,Skew Deviation,Smooth Pursuit Deficiency,Brown's Tendon Sheath Syndrome,Convergence Excess,Cyclophoria,Deficiency, Smooth Pursuit,Eye Motility Disorders,Parinaud's Syndrome,Paroxysmal Ocular Dyskinesia,Pseudoophthalmoplegia,Spasm of Conjugate Gaze,Syndrome, Brown's Tendon Sheath,Tendon Sheath Syndrome of Brown,Browns Syndrome,Conjugate Gaze Spasm,Conjugate Gaze Spasms,Convergence Excesses,Convergence Insufficiencies,Cyclophorias,Deficiencies, Smooth Pursuit,Deviation, Skew,Deviations, Skew,Dyskinesia, Paroxysmal Ocular,Dyskinesias, Paroxysmal Ocular,Excess, Convergence,Eye Motility Disorder,Eye Movement Disorder,Gaze Spasms, Conjugate,Insufficiencies, Convergence,Insufficiency, Convergence,Internuclear Ophthalmoplegias,Ocular Dyskinesia, Paroxysmal,Ocular Dyskinesias, Paroxysmal,Ocular Motility Disorder,Ophthalmoplegia, Internuclear,Ophthalmoplegias, Internuclear,Parinauds Syndrome,Paroxysmal Ocular Dyskinesias,Pseudoophthalmoplegias,Pursuit Deficiencies, Smooth,Pursuit Deficiency, Smooth,Skew Deviations,Smooth Pursuit Deficiencies,Syndrome, Brown,Syndrome, Brown's,Syndrome, Parinaud,Syndrome, Parinaud's