The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

[adrenomyeloneuropathy]

To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy (X-ALD ).Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR ) and sequencing .Among these patients , four were siblings from two unrelated families , the others were unrelated . There were 31 cases with childhood cerebral (CCALD ), 8 cases with adolescent cerebral (ACALD ) and 1 case with adrenomyeloneuropathy (AMN ). Visual impairment , which presented in 12 cases (30 %), was the most common initial symptom . Nine (69 %) of 13 cases who had hydrocortisone and ACTH measured showed adrenal insufficiency . By follow-up date , 19 cases (47 .5 %) were dead . The interval from onset to death varied from 1 to 6 years and the average were 3 .3 years . The mean age at death was 10 .5 years . Eleven cases (27 .5 %) were in vegetable state . The mean interval from onset to apparently vegetable state was 2 .8 years (range from 1 to 6 years ). Four cases had progressive neurological disability . Four cases were lost follow-up . One case with CCALD and one case with ACALD progressed slowly . The courses of the disease of these two patients were 5 years and 15 years respectively . Thirty five mutations were identified in 40 cases . Most were located within exon 1 -3 (40 %, 16 /40 ) and exon 6 -8 (42 %, 17 /40 ). There is a distinct clustering of missense mutations in exon 6 (17 %, 7 /40 ). Five types of mutations were associated with CCALD , three with ACALD and a missense mutation was identified in the patients with AMN . The two patients with long disease courses had a missense mutation c .1559 T >A and a nonsense mutation c .1785 G >A respectively . The siblings with similar manifestations and onset age were observed in two families , whose mutations were c .887 A >G and c .1028 G >T .The phenotypes , disease severity and rate of neurodegeneration could not be predicted by the nature of mutations .

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adrenomyeloneuropathy

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