00316437

open access

Version of Record

Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity

English (英語)

The Kobe journal of the medical sciences

48(1/2)

25-31

Kobe University School of Medicine

2002-02

2006-07-15

Spinal muscular atrophy (SMA) is one of the most common autosomal recessivedisorders characterized by degeneration of anterior horn cells in the spinal cord, andleads to progressive muscular weakness and atrophy. At least three SMA-related geneshave been identified: SMN1, NAIP and p44t. We analyzed these genes in 32 SMApatients and found that the SMN1 gene was deleted in 30 of 32 patients (94 %),irrespective of clinical type. The NAIP gene was deleted in 6 patients and its deletionrate was higher in type I patients than that in typeII or III. Further, in type I patientslacking the NAIP gene, deterioration in their respiratory function is more rapid than inthose type I patients retaining the NAIP gene. Since complete p44t deletion wasobserved in only 3 patients, the correlation between the p44t deletion and severity ofSMA remained ambiguous. We concluded that the NAIP deletion was closely related tothe clinical severity of SMA and was a predictive marker of SMA prognosis, while theSMN1 deletion did not correlate with clinical severity.

the p44t gene

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