神经变性伴脑内铁积聚

定义 英文原文（暂无中文）

A group of rare neurometabolic disease characterized by progressive extrapyramidal dysfunction (including generalized or oromandibular dystonia, dysarthria, Parkinsonism, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. It encompasses several disorders that can be distinguised by MRI and patients may present with variable clinical features including neuropathy, spastic paraplegia, encephalopathy, autism, dementia, diabetus mellitus, retinitis pigmentosa, optic atrophy, hypogonadism, alopecia and deafness. The age at onset and rate of progression are variable among individuals.

别名

NBIA

基本事实

遗传方式

常染色体显性、常染色体隐性、X 连锁显性

发病年龄

青少年期、成年期、儿童期、婴儿期

患病率

1-9 / 1 000 000（Europe）

相关基因 11来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

外部标识与链接