Module

Uitkomst raming

Toelichting

Diagnostiek bij verworven, niet-immuungemedieerde ataxie

Geen financiële gevolgen

Uit de toetsing volgt dat de aanbeveling(en) niet breed toepasbaar zijn (<5.000 patiënten) en daarom naar verwachting geen substantiële financiële gevolgen zal hebben voor de collectieve uitgaven.

A systematic literature search was performed by a medical information specialist using the following bibliographic databases: Embase.com and Ovid/Medline all. Both databases were searched from 2005 to April 9, 2025 for systematic reviews, RCTs and observational studies. Systematic searches were completed using a combination of controlled vocabulary and natural language keywords. The overall search strategy was derived from the following primary search concepts: (1) cerebellar ataxia; (2) antibody tests. Duplicates were removed using EndNote software. After deduplication a total of 990 records were imported for title/abstract screening.

No.

Query

Results

#1

'cerebellar ataxia'/de OR 'ataxia telangiectasia'/exp OR 'ataxia-telangiectasia-like disorder'/exp OR 'boucher neuhauser syndrome'/exp OR 'canvas syndrome'/exp OR 'friedreich ataxia'/exp OR 'hereditary ataxia'/exp OR 'marinesco sjogren syndrome'/exp OR 'multiple system atrophy cerebellar type'/exp OR 'refsum disease'/exp OR 'ataxic gait'/exp OR 'machado joseph disease'/exp OR 'narp syndrome'/exp OR 'olivopontocerebellar atrophy'/exp OR 'spinocerebellar degeneration'/exp OR 'cerebellum degeneration'/exp OR 'cerebellum atrophy'/exp OR 'sporadic ataxia'/exp OR ((ataxia* NEAR/4 (cerebell* OR cerebral OR spinocerebell* OR 'spino cerebell*' OR spinocerebral* OR 'spino cerebral*' OR friedreich* OR friedrich* OR fgf* OR sporadic OR hereditary OR inherited OR congenital* OR familial OR degenerative OR genetic OR msa OR telangiectatica OR teleangiectasia OR telangiectasia)):ti,ab,kw) OR ((spinal NEAR/2 ataxia*):ti,ab,kw) OR heredataxia*:ti,ab,kw OR heredoataxia*:ti,ab,kw OR (((spinocerebell* OR cerebell*) NEAR/3 (atroph* OR degeneration* OR msa)):ti,ab,kw) OR 'msa c':ti,ab,kw OR (((canvas OR cabv) NEAR/2 syndrome*):ti,ab,kw) OR (((machado OR joseph OR azorean OR dejerine OR refsum* OR narp) NEAR/2 (disease* OR syndrome*)):ti,ab,kw) OR (((olivopontocerebell* OR 'olivo ponto cerebell*' OR olivocerebell* OR 'olivo cerebell*') NEAR/3 (atroph* OR degenerat*)):ti,ab,kw) OR 'bar syndrome*':ti,ab,kw OR (('boucher neuhauser' NEAR/3 syndrome*):ti,ab,kw) OR ((marinesco NEAR/2 (sjoegren OR sjogren)):ti,ab,kw) OR iloca:ti,ab,kw OR sloca:ti,ab,kw

58320

#2

'immunoassay'/exp OR (((antibody OR antigen* OR immune OR immuno*) NEAR/3 (test* OR assay*)):ti,ab,kw) OR immunoanalys*:ti,ab,kw OR immunoassay*:ti,ab,kw OR 'alpha tocopherol'/exp OR 'alpha tocopherol deficiency'/exp OR tocopherol:ti,ab,kw OR ((vitamin* NEAR/3 (e OR b1 OR 'b 1' OR b12 OR 'b 12')):ti,ab,kw) OR 'thiamine'/exp OR 'thiamine deficiency'/de OR 'thiamin*':ti,ab,kw OR 'cyanocobalamin'/exp OR 'cyanocobalamin*':ti,ab,kw OR 'cobalamin'/exp OR 'b12 deficiency'/de OR 'cobalamin*':ti,ab,kw OR 'thyroid antibody test kit'/exp OR 'thyroid peroxidase antibody test kit'/exp OR 'glutamic acid decarboxylase antibody test kit'/exp OR ((anti* NEAR/3 (tpo OR thyroid OR thyroglobulin* OR gad* OR 'glutamic acid decarboxylase' OR 'glutamate decarboxylase')):ti,ab,kw) OR 'thyrotropin'/exp OR 'thyrotropin*':ti,ab,kw OR thyreotropin*:ti,ab,kw OR 'thyroid stimulating hormone*':ti,ab,kw OR 'tsh':ti,ab,kw OR 'calcium'/exp OR 'calcium':ti,ab,kw

2096770

#3

#1 AND #2 NOT ('conference abstract'/it OR 'editorial'/it OR 'letter'/it OR 'note'/it) NOT (('animal'/exp OR 'animal experiment'/exp OR 'animal model'/exp OR 'nonhuman'/exp) NOT 'human'/exp) NOT (('adolescent'/exp OR 'child'/exp OR adolescent*:ti,ab,kw OR child*:ti,ab,kw OR schoolchild*:ti,ab,kw OR infant*:ti,ab,kw OR girl*:ti,ab,kw OR boy*:ti,ab,kw OR teen:ti,ab,kw OR teens:ti,ab,kw OR teenager*:ti,ab,kw OR youth*:ti,ab,kw OR pediatr*:ti,ab,kw OR paediatr*:ti,ab,kw OR puber*:ti,ab,kw) NOT ('adult'/exp OR 'aged'/exp OR 'middle aged'/exp OR adult*:ti,ab,kw OR man:ti,ab,kw OR men:ti,ab,kw OR woman:ti,ab,kw OR women:ti,ab,kw))

2654

#4

#3 AND [2005-2025]/py

2080

#5

'meta analysis'/exp OR 'systematic review'/exp OR 'scoping review'/exp OR 'rapid review'/exp OR 'umbrella review'/exp OR 'cochrane database of systematic reviews'/jt OR 'network meta-analysis'/exp OR 'networkmeta analy*':ti,ab,kw OR 'networkmetaanaly*':ti,ab,kw OR metaanaly*:ti,ab,kw OR 'meta analy*':ti,ab,kw OR metanaly*:ti,ab,kw OR prisma:ti,ab,kw OR prospero:ti,ab,kw OR metaanali*:ti,ab,kw OR 'meta anali*':ti,ab,kw OR metanali*:ti,ab,kw OR (((systemati* OR scoping OR umbrella OR 'structured literature') NEAR/3 (review* OR overview*)):ti,ab,kw) OR (((structured OR systemic*) NEAR/3 (review* OR overview* OR synth*) NEAR/3 literature):ti,ab,kw) OR ((systemic* NEAR/1 review*):ti,ab,kw) OR (((systemati* OR literature OR database* OR 'data base*') NEAR/10 search*):ti,ab,kw) OR (((structured OR comprehensive* OR systemic*) NEAR/3 search*):ti,ab,kw) OR (((literature NEAR/3 (review* OR overview*)):ti,ab,kw) AND (search*:ti,ab,kw OR database*:ti,ab,kw OR 'data base*':ti,ab,kw)) OR (('data extraction*':ti,ab,kw OR 'data source*':ti,ab,kw) AND ('study selection*':ti,ab,kw OR 'studies selection*':ti,ab,kw)) OR ('search strateg*':ti,ab,kw AND 'selection criteria*':ti,ab,kw) OR ('data source*':ti,ab,kw AND 'data synth*':ti,ab,kw) OR medline*:ti,ab,kw OR pubmed*:ti,ab,kw OR 'pub med*':ti,ab,kw OR embase:ti,ab,kw OR cochrane*:ti,ab,kw OR (((critical* OR rapid*) NEAR/2 (review* OR overview* OR synth*)):ti) OR ((((critical* OR rapid*) NEAR/3 (review* OR overview* OR synth*)):ab) AND (search*:ab OR database*:ab OR 'data base*':ab)) OR metasynth*:ti,ab,kw OR 'meta synth*':ti,ab,kw OR 'review* of review*':ti,ab,kw

1098475

#6

'clinical trial'/exp OR 'randomization'/exp OR 'single blind procedure'/exp OR 'double blind procedure'/exp OR 'crossover procedure'/exp OR 'placebo'/exp OR 'prospective study'/exp OR rct:ab,ti OR random*:ab,ti OR 'single blind':ab,ti OR 'randomized controlled trial'/exp OR placebo*:ab,ti

4248096

#7

'major clinical study'/de OR 'clinical study'/de OR 'family study'/de OR 'longitudinal study'/de OR 'retrospective study'/de OR 'prospective study'/de OR 'cohort analysis'/de OR 'case control study'/de OR 'comparative study'/exp OR 'control group'/de OR 'controlled study'/de OR 'controlled clinical trial'/de OR 'crossover procedure'/de OR 'double blind procedure'/de OR 'phase 2 clinical trial'/de OR 'phase 3 clinical trial'/de OR 'phase 4 clinical trial'/de OR 'pretest posttest design'/de OR 'pretest posttest control group design'/de OR 'quasi experimental study'/de OR 'single blind procedure'/de OR 'triple blind procedure'/de OR ((cohort NEAR/1 (study OR studies)):ab,ti) OR (('case control' NEAR/1 (study OR studies)):ab,ti) OR (('follow up' NEAR/1 (study OR studies)):ab,ti) OR (observational NEAR/1 (study OR studies)) OR ((epidemiologic NEAR/1 (study OR studies)):ab,ti) OR (('cross sectional' NEAR/1 (study OR studies)):ab,ti) OR (((control OR controlled) NEAR/6 trial):ti,ab,kw) OR (((control OR controlled) NEAR/6 (study OR studies)):ti,ab,kw) OR (((control OR controlled) NEAR/1 active):ti,ab,kw) OR 'open label*':ti,ab,kw OR (((double OR two OR three OR multi OR trial) NEAR/1 (arm OR arms)):ti,ab,kw) OR ((allocat* NEAR/10 (arm OR arms)):ti,ab,kw) OR placebo*:ti,ab,kw OR 'sham-control*':ti,ab,kw OR (((single OR double OR triple OR assessor) NEAR/1 (blind* OR masked)):ti,ab,kw) OR nonrandom*:ti,ab,kw OR 'non-random*':ti,ab,kw OR 'quasi-experiment*':ti,ab,kw OR crossover:ti,ab,kw OR 'cross over':ti,ab,kw OR 'parallel group*':ti,ab,kw OR 'factorial trial':ti,ab,kw OR ((phase NEAR/5 (study OR trial)):ti,ab,kw) OR ((case* NEAR/6 (matched OR control*)):ti,ab,kw) OR ((match* NEAR/6 (pair OR pairs OR cohort* OR control* OR group* OR healthy OR age OR sex OR gender OR patient* OR subject* OR participant*)):ti,ab,kw) OR ((propensity NEAR/6 (scor* OR match*)):ti,ab,kw) OR versus:ti OR vs:ti OR compar*:ti OR ((compar* NEAR/1 study):ti,ab,kw) OR (('observational study'/de OR 'cross-sectional study'/de OR 'multicenter study'/de OR 'correlational study'/de OR 'follow up'/de OR cohort*:ti,ab,kw OR 'follow up':ti,ab,kw OR followup:ti,ab,kw OR longitudinal*:ti,ab,kw OR prospective*:ti,ab,kw OR retrospective*:ti,ab,kw OR observational*:ti,ab,kw OR 'cross sectional*':ti,ab,kw OR cross?ectional*:ti,ab,kw OR multicent*:ti,ab,kw OR 'multi-cent*':ti,ab,kw OR consecutive*:ti,ab,kw) AND (group:ti,ab,kw OR groups:ti,ab,kw OR subgroup*:ti,ab,kw OR versus:ti,ab,kw OR vs:ti,ab,kw OR compar*:ti,ab,kw OR 'odds ratio*':ab OR 'relative odds':ab OR 'risk ratio*':ab OR 'relative risk*':ab OR 'rate ratio':ab OR aor:ab OR arr:ab OR rrr:ab OR ((('or' OR 'rr') NEAR/6 ci):ab)))

17985308

#8

#4 AND #5

68

#9

#4 AND #6 NOT #8

138

#10

#4 AND #7 NOT (#8 OR #9)

654

#11

#8 OR #9 OR #10

860

#

Searches

Results

1

exp Cerebellar Ataxia/ or exp Spinocerebellar Degenerations/ or exp Gait Ataxia/ or Multiple System Atrophy/ or Olivopontocerebellar Atrophies/ or (ataxia* adj4 (cerebell* or cerebral or spinocerebell* or 'spino cerebell*' or spinocerebral* or 'spino cerebral*' or friedreich* or friedrich* or fgf* or sporadic or hereditary or inherited or congenital* or familial or degenerative or genetic or msa or telangiectatica or teleangiectasia or telangiectasia)).ti,ab,kf. or (spinal adj2 ataxia*).ti,ab,kf. or heredataxia*.ti,ab,kf. or heredoataxia*.ti,ab,kf. or ((spinocerebell* or cerebell*) adj3 (atroph* or degeneration* or msa)).ti,ab,kf. or 'msa c'.ti,ab,kf. or ((canvas or cabv) adj2 syndrome*).ti,ab,kf. or ((machado or joseph or azorean or dejerine or refsum* or narp) adj2 (disease* or syndrome*)).ti,ab,kf. or ((olivopontocerebell* or 'olivo ponto cerebell*' or olivocerebell* or ' olivo cerebell*') adj3 (atroph* or degenerat*)).ti,ab,kf. or 'bar syndrome*'.ti,ab,kf. or ('boucher neuhauser' adj3 syndrome*).ti,ab,kf. or (Marinesco adj2 (Sjoegren or Sjogren)).ti,ab,kf. or ILOCA.ti,ab,kf. or SLOCA.ti,ab,kf.

39152

2

exp Immunoassay/ or ((antibody or antigen* or immune or immuno*) adj3 (test* or assay*)).ti,ab,kf. or immunoanalys*.ti,ab,kf. or immunoassay*.ti,ab,kf. or exp alpha-Tocopherol/ or Vitamin E Deficiency/ or tocopherol.ti,ab,kf. or (vitamin* adj3 (e or b1 or 'b 1' or b12 or 'b 12')).ti,ab,kf. or exp Thiamine/ or Thiamine Deficiency/ or 'thiamin*'.ti,ab,kf. or 'cyanocobalamin*'.ti,ab,kf. or exp Vitamin B 12/ or Vitamin B 12 Deficiency/ or 'cobalamin*'.ti,ab,kf. or (anti* adj3 (tpo or thyroid or thyroglobulin* or gad* or 'glutamic acid decarboxylase' or 'glutamate decarboxylase')).ti,ab,kf. or exp Thyrotropin/ or 'thyrotropin*'.ti,ab,kf. or thyreotropin*.ti,ab,kf. or 'thyroid stimulating hormone*'.ti,ab,kf. or 'tsh'.ti,ab,kf. or exp Calcium/ or 'calcium'.ti,ab,kf.

1491098

3

(1 and 2) not (comment/ or editorial/ or letter/) not ((exp animals/ or exp models, animal/) not humans/) not ((Adolescent/ or Child/ or Infant/ or adolescen*.ti,ab,kf. or child*.ti,ab,kf. or schoolchild*.ti,ab,kf. or infant*.ti,ab,kf. or girl*.ti,ab,kf. or boy*.ti,ab,kf. or teen.ti,ab,kf. or teens.ti,ab,kf. or teenager*.ti,ab,kf. or youth*.ti,ab,kf. or pediatr*.ti,ab,kf. or paediatr*.ti,ab,kf. or puber*.ti,ab,kf.) not (Adult/ or adult*.ti,ab,kf. or man.ti,ab,kf. or men.ti,ab,kf. or woman.ti,ab,kf. or women.ti,ab,kf.))

1987

4

limit 3 to yr="2005 -Current"

1316

5

exp Meta-Analysis/ or exp Network Meta-Analysis/ or exp Systematic Review/ or (networkmeta analy* or networkmetaanaly* or metaanaly* or meta analy* or metanaly* or prisma or prospero or metaanali* or meta anali* or metanali*).ti,ab,kf. or ((systemati* or scoping or umbrella or structured literature) adj3 (review* or overview*)).ti,ab,kf. or ((structured or systemic*) adj3 (review* or overview* or synth*) adj3 literature).ti,ab,kf. or (systemic* adj1 review*).ti,ab,kf. or ((systemati* or literature or database* or data base*) adj10 search*).ti,ab,kf. or ((structured or comprehensive* or systemic*) adj3 search*).ti,ab,kf. or ((literature adj3 (review* or overview*)) and (search* or database* or data base*)).ti,ab,kf. or ((data extraction* or data source*) and (study selection* or studies selection*)).ti,ab,kf. or (search strateg* and selection criteria*).ti,ab,kf. or (data source* and data synth*).ti,ab,kf. or (medline* or pubmed* or pub med* or embase or cochrane*).ti,ab,kf. or cochrane.jw. or ((critical* or rapid*) adj2 (review* or overview* or synth*)).ti. or (((critical* or rapid*) adj3 (review* or overview* or synth*)) and (search* or database* or data base*)).ab. or metasynth*.ti,ab,kf. or meta synth*.ti,ab,kf.

817936

6

exp clinical trial/ or randomized controlled trial/ or exp clinical trials as topic/ or randomized controlled trials as topic/ or Random Allocation/ or Double-Blind Method/ or Single-Blind Method/ or (clinical trial, phase i or clinical trial, phase ii or clinical trial, phase iii or clinical trial, phase iv or controlled clinical trial or randomized controlled trial or multicenter study or clinical trial).pt. or random*.ti,ab. or (clinic* adj trial*).tw. or ((singl* or doubl* or treb* or tripl*) adj (blind$3 or mask$3)).tw. or Placebos/ or placebo*.tw.

2867049

7

Case-control Studies/ or clinical trial, phase ii/ or clinical trial, phase iii/ or clinical trial, phase iv/ or comparative study/ or control groups/ or controlled before-after studies/ or controlled clinical trial/ or double-blind method/ or historically controlled study/ or matched-pair analysis/ or single-blind method/ or (((control or controlled) adj6 (study or studies or trial)) or (compar* adj (study or studies)) or ((control or controlled) adj1 active) or "open label*" or ((double or two or three or multi or trial) adj (arm or arms)) or (allocat* adj10 (arm or arms)) or placebo* or "sham-control*" or ((single or double or triple or assessor) adj1 (blind* or masked)) or nonrandom* or "non-random*" or "quasi-experiment*" or "parallel group*" or "factorial trial" or "pretest posttest" or (phase adj5 (study or trial)) or (case* adj6 (matched or control*)) or (match* adj6 (pair or pairs or cohort* or control* or group* or healthy or age or sex or gender or patient* or subject* or participant*)) or (propensity adj6 (scor* or match*))).ti,ab,kf. or (confounding adj6 adjust*).ti,ab. or (versus or vs or compar*).ti. or exp cohort studies/ or epidemiologic studies/ or ((multicenter study/ or observational study/ or seroepidemiologic studies/ or (cohort* or 'follow up' or followup or longitudinal* or prospective* or retrospective* or observational* or multicent* or 'multi-cent*' or consecutive*).ti,ab,kf.) and ((group or groups or subgroup* or versus or vs or compar*).ti,ab,kf. or ('odds ratio*' or 'relative odds' or 'risk ratio*' or 'relative risk*' or aor or arr or rrr).ab. or (("OR" or "RR") adj6 CI).ab.)) or Case control.tw. or cohort.tw. or Cohort analy$.tw. or (Follow up adj (study or studies)).tw. or (observational adj (study or studies)).tw. or Longitudinal.tw. or Retrospective*.tw. or prospective*.tw. or consecutive*.tw. or Cross sectional.tw. or Cross-sectional studies/ or historically controlled study/ or interrupted time series analysis/

7975729

8

4 and 5

16

9

(4 and 6) not 8

61

10

(4 and 7) not (8 or 9)

220

11

8 or 9 or 10

297