Biomaterial Database

[Autosomal recessive cerebellar ataxias with oculomotor apraxia]. 2006

I Le Ber, and S Rivaud-Péchoux, and A Brice, and A Dürr

INSERM U679, Hôpital Pitié-Salpêtrière, Paris.

BACKGROUND Autosomal recessive cerebellar ataxias (ARCA) comprise a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia has been delineated. BACKGROUND The ataxias with oculomotor apraxia (AOA) include four distinct genetic entities at least: ataxia-telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The responsible genes, ATM, MRE11, APTX and SETX respectively, are implicated in DNA-break repair mechanisms. CONCLUSIONS We describe the phenotypic and genetic characteristics of these ataxias, based on a review of the literature and a personal study of AOA1 and AOA2 patients.

UI	MeSH Term	Description	Entries
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
D004249	DNA Damage	Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.	DNA Injury,DNA Lesion,DNA Lesions,Genotoxic Stress,Stress, Genotoxic,Injury, DNA,DNA Injuries
D004260	DNA Repair	The removal of DNA LESIONS and/or restoration of intact DNA strands without BASE PAIR MISMATCHES, intrastrand or interstrand crosslinks, or discontinuities in the DNA sugar-phosphate backbones.	DNA Damage Response
D004265	DNA Helicases	Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition, DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.	ATP-Dependent DNA Helicase,DNA Helicase,DNA Unwinding Protein,DNA Unwinding Proteins,ATP-Dependent DNA Helicases,DNA Helicase A,DNA Helicase E,DNA Helicase II,DNA Helicase III,ATP Dependent DNA Helicase,ATP Dependent DNA Helicases,DNA Helicase, ATP-Dependent,DNA Helicases, ATP-Dependent,Helicase, ATP-Dependent DNA,Helicase, DNA,Helicases, ATP-Dependent DNA,Helicases, DNA,Protein, DNA Unwinding,Unwinding Protein, DNA,Unwinding Proteins, DNA
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
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000076228	MRE11 Homologue Protein	A component of the MRN complex along with Rad50 and Nibrin. Together, these perform a critical function in the repair of DOUBLE-STRANDED DNA BREAKS; RECOMBINATIONAL DNA REPAIR; maintenance of TELOMERE integrity and MEIOSIS. MRE11, which contains a poly(ADP)-ribose binding motif and associates with PARP1, possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity. Mutations in the MRE11 gene are associated with ATAXIA-TELANGIECTASIA-like disorder 1.	MRE11A Protein,Meiotic Recombination 11 Homolog 1 Protein,Homologue Protein, MRE11
D001072	Apraxias	A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)	Dressing Apraxia,Dyspraxia,Ideational Apraxia,Apraxia,Apraxia of Phonation,Apraxia, Articulatory,Apraxia, Developmental Verbal,Apraxia, Facial-Oral,Apraxia, Gestural,Apraxia, Motor,Apraxia, Oral,Apraxia, Verbal,Developmental Verbal Dyspraxia,Dyspraxia, Articulatory,Dyspraxia, Oral,Dyspraxia, Verbal,Speech And Language Disorder With Orofacial Dyspraxia,Speech-Language Disorder 1,1s, Speech-Language Disorder,Apraxia, Dressing,Apraxia, Facial Oral,Apraxia, Ideational,Apraxias, Articulatory,Apraxias, Developmental Verbal,Apraxias, Dressing,Apraxias, Facial-Oral,Apraxias, Gestural,Apraxias, Ideational,Apraxias, Motor,Apraxias, Oral,Apraxias, Verbal,Articulatory Apraxia,Articulatory Apraxias,Articulatory Dyspraxia,Articulatory Dyspraxias,Developmental Verbal Apraxia,Developmental Verbal Apraxias,Developmental Verbal Dyspraxias,Disorder 1, Speech-Language,Disorder 1s, Speech-Language,Dressing Apraxias,Dyspraxia, Developmental Verbal,Dyspraxias,Dyspraxias, Articulatory,Dyspraxias, Developmental Verbal,Dyspraxias, Oral,Dyspraxias, Verbal,Facial-Oral Apraxia,Facial-Oral Apraxias,Gestural Apraxia,Gestural Apraxias,Ideational Apraxias,Motor Apraxia,Motor Apraxias,Oral Apraxia,Oral Apraxias,Oral Dyspraxia,Oral Dyspraxias,Phonation Apraxia,Phonation Apraxias,Speech Language Disorder 1,Speech-Language Disorder 1s,Verbal Apraxia,Verbal Apraxia, Developmental,Verbal Apraxias,Verbal Apraxias, Developmental,Verbal Dyspraxia,Verbal Dyspraxia, Developmental,Verbal Dyspraxias,Verbal Dyspraxias, Developmental