Table 4 Studies reporting distribution of MLD clinical subtypes in diagnosed MLD cases
From: A systematic review on the birth prevalence of metachromatic leukodystrophy
Reference/study design (qualitya) | Country/ies | Sample size | Distribution of MLD clinical subtype |
|---|---|---|---|
Europe | |||
Heim et al. [38]/cross-sectional (moderate) | Germany | 125 | • Late-infantile: 39.2% (n = 49) • Juvenile: 32.0% (n = 40) • Adult: 17.6% (n = 22) • Unspecified: 10.4% (n = 13) Remaining case (n = 1) was MLD‑MSD |
Poorthuis et al. [34]/retrospective cohort (good) | Netherlands | 103 | • Late-infantile: 27.2% (n = 28) • Juvenile: 39.8% (n = 41) • Adult: 22.3% (n = 23) • Unspecified: 10.7% (n = 11) |
Kehrer et al. [12]/prospective cohort (moderate) | Germany | 97 | • Late-infantile: 36.1% (n = 35) • Juvenile: 57.7% (n = 56) – Early-juvenile: 32.1% (n = 18) – Late-juvenile: 67.8% (n = 38) • Adult: 6.2% (n = 6) |
Polten et al. [45]/cross-sectional (moderate) | Germany | 68 | • Late-infantile: 42.6% (n = 29) • Juvenile: 38.2% (n = 26) • Adult: 16.2% (n = 11) • Unspecified: 2.9% (n = 2) |
Beerepoot et al. [9]/retrospective cohort (moderate) | Netherlands | 67 | • Late-infantile: 16.4% (n = 11) • Juvenile: 58.2% (n = 39) – Early-juvenile: 35.9% (n = 14) – Late-juvenile: 64.1% (n = 25) • Adult: 25.4% (n = 17) |
Ługowska et al. [40]/cross-sectional (moderate) | Poland | 43 | • Late-infantile: 32.6% (n = 14) • Juvenile: 41.9% (n = 18) – Early-juvenile: 61.1% (n = 11) – Late-juvenile: 38.9% (n = 7) • Adult: 25.6% (n = 11) |
Berger et al. [35]/cross-sectional (moderate) | Austria, Croatia, Germany and Poland | 27 | Based on a total of 25 unrelated patients • Late-infantile: 28.0% (n = 7) • Juvenile: 52.0% (n = 13) • Adult: 20.0% (n = 5) |
Biffi et al. [52]/prospective cohort (low) | Italy | 26 | • Late-infantile: 61.5% (n = 16) • Juvenile: 34.6% (n = 9) – Early-juvenile: 77.8% (n = 7) – Late-juvenile: 22.2% (n = 2) • Adult: 3.8% (n = 1) |
Poupětová et al. [46]/retrospective cohort (moderate) | Czech Republic | 25 | • Late-infantile: 52.0% (n = 13) • Juvenile: 20.0% (n = 5) • Adult: 28.0% (n = 7) |
Pinto et al. [44]/retrospective cohort (moderate) | Portugal | 21 | • Late-infantile: 52.4% (n = 11) • Juvenile: 14.3% (n = 3) • Adult: 33.3% (n = 7) |
Barth et al. [51]/prospective cohort (low) | UK | 17 | • Late-infantile: 52.9% (n = 9) • Juvenile: 35.3% (n = 6) • Adult: 11.8% (n = 2) |
North America | |||
Bascou et al. [26]b/prospective cohort | USA | 122 | • Late-infantile: 63% • Juvenile: 31% – Early-juvenile: 64.5% – Late-juvenile: 35.5% • Adult: 6% |
Asia–Pacific | |||
Narayanan et al. [42]/cross-sectional (moderate) | India | 41 | • Late-infantile: 80.5% (n = 33) • Juvenile: 14.6% (n = 6) • Adult: 4.9% (n = 2) |
Lomash et al. [27]b/prospective cohort | India | 22 | n numbers not reported for breakdown |
Koto et al. [39]/cross-sectional (moderate) | Japan | 24 | • Late-infantile: 62.5% (n = 15) • Adult: 8.3% (n = 2) • Unknown: 29.2% (n = 7) |
Hettiarachchi et al. [53]/prospective cohort (low) | Sri Lanka | 20 | • Late-infantile: 35.0% (n = 7) • Juvenile: 15.0% (n = 3) – Early-juvenile: 33.3% (n = 1) – Late-juvenile: 66.7% (n = 2) • Adult: 50.0% (n = 10) |
Shukla et al. [47]/cross-sectional (moderate) | India | 20 | • Late-infantile: 55.0% (n = 11) • Juvenile: 25.0% (n = 5) – Early-juvenile: 80.0% (n = 4) – Late-juvenile: 20.0% (n = 1) • Adult: 0.0% (n = 0) • Asymptomaticc: 20.0% (n = 4) |
South America | |||
Virgens et al. [49]/retrospective cohort (moderate) | Brazil | 27 | – |
Middle East | |||
Mahdieh et al. [54]/retrospective cohort (low) | Iran | 19 | • Late-infantile: 36.8% (n = 7) • Juvenile: 63.1% (n = 12) – Early-juvenile: 66.7% (n = 8) – Late-juvenile: 33.3% (n = 4) • Adult: 0.0% (n = 0) |
Al-Hassnan et al. [50]/retrospective cohort (low) | Saudi Arabia | 16 | – |