Syndrome of micrencephaly, strio-cerebellar calcifications, and leucodystrophy

A comprehensive description of the severity groups in Cockayne syndrome

“…Hand and other tremors were reported in 11/16 survey individuals and in 11 moderately affected children in the literature [Neill and Dingwall, 1950;Macdonald et al, 1960;Spark, 1965;Norman and Tingey, 1966;Lyon et al, 1968;Land and Nogrady, 1969;Rowlatt, 1969;Sugarman et al, 1977;Cook, 1982;Houston et al, 1982;Sugita et al, 1987;Boltshauser et al, 1989;Neilan et al, 2008]. Studies often them described as ''coarse tremors'' or ''intention tremors.''…”

“…A cause of death was identifiable in 21 cases (10 survey/11 literature, including newsletters [Macdonald et al, 1960;Norman and Tingey, 1966;Lyon et al, 1968;Rowlatt, 1969;Sugarman et al, 1977;Soffer et al, 1979;Houston et al, 1982;Gandolfi et al, 1984]. Death was due to pneumonia/respiratory ailments in 10 cases.…”

“…The ability to walk or stand was lost as the syndrome-especially contractures-progressed, though the age of skill loss varied among study subjects. Most moderately affected children described in the literature were able to walk alone [Cockayne, 1936;Neill and Dingwall, 1950;Macdonald et al, 1960;Norman and Tingey, 1966;Jin et al, 1979;Gandolfi et al, 1984;Schenone et al, 1986]; though a few needed assistance [Rowlatt, 1969;Soffer et al, 1979;Proops et al, 1981;Houston et al, 1982].…”

“…OFC data at age 2 years 9 months or older were available for 28 moderately affected children (survey data/ literature) [Cockayne, 1936[Cockayne, , 1946Neill and Dingwall, 1950;Macdonald et al, 1960;Spark, 1965;Norman and Tingey, 1966;Lyon et al, 1968;Srivastava et al, 1974;Hernandez et al, 1975;Sugarman et al, 1977;Brumback et al, 1978;Cunningham et al, 1978;Jin et al, 1979;Soffer et al, 1979;Proops et al, 1981;Houston et al, 1982;Gandolfi et al, 1984]. Ages ranged from 2 years 9 months to 21 years.…”

“…This figure was determined from survey data, newsletters, and case studies published in the literature. Data were only used when diagnosis and severity group could be reliably determined [Macdonald et al, 1960;Norman and Tingey, 1966;Lyon et al, 1968;Rowlatt, 1969;Sugarman et al, 1977;Soffer et al, 1979;Proops et al, 1981;Houston et al, 1982;Gandolfi et al, 1984].…”