Sghirlanzoni A, Pareyson D, Marazzi R, Cavaletti G, Bellone E, Mandich P, Balestrini M R, Riva D
Divisione di Neurologia, Istituto Nazionale Neurologico "C. Besta", IRCCS, Milano.
Ital J Neurol Sci. 1994 Feb;15(1):5-14. doi: 10.1007/BF02343492.
We compared 25 autosomal dominant hereditary motor and sensory neuropathy (HMSN) type I patients with 7 subjects affected by hypertrophic HMSN with non-dominant inheritance. All the autosomal dominant HMSN I cases carried the chromosome 17p11.2 duplication, providing evidence that it is widely represented in HMSN I families. The second group included: two siblings born to unrelated, unaffected parents and suffering from hypertrophic HMSN of strikingly different severity; two sisters with HMSN I phenotype, born to first-cousin unaffected parents; two brothers with HMSN III phenotype born to unrelated parents both showing HMSN II phenotype; a child with classic HMSN III phenotype, born to unrelated, unaffected parents. The 17p11.2 duplication was not found in any of the patients of the second series or in their parents. Our data provide further evidence that: HMSN III is heterogeneous and encompasses the homozygous expressions of different neuropathic genes; it is advisable to separate autosomal recessive hypertrophic HMSN from dominant HMSN Ia, because they appear to be due to different DNA mutations.
我们将25例常染色体显性遗传性运动和感觉神经病（HMSN）I型患者与7例受非显性遗传的肥厚性HMSN影响的受试者进行了比较。所有常染色体显性HMSN I型病例均携带17号染色体p11.2重复，这证明其在HMSN I型家族中广泛存在。第二组包括：两名出生于无血缘关系、未患病父母的兄弟姐妹，患有严重程度明显不同的肥厚性HMSN；两名患有HMSN I型表型的姐妹，出生于表亲未患病父母；两名患有HMSN III型表型的兄弟，出生于无血缘关系的父母，父母均表现出HMSN II型表型；一名患有典型HMSN III型表型的儿童，出生于无血缘关系、未患病父母。在第二组系列的任何患者及其父母中均未发现17p11.2重复。我们的数据进一步证明：HMSN III是异质性的，包含不同神经病变基因的纯合表达；建议将常染色体隐性肥厚性HMSN与显性HMSN Ia区分开来，因为它们似乎是由不同的DNA突变引起的。
