Department of Medicine, Dow Medical College, DUHS, Karachi, Sindh, Pakistan.
Orphanet J Rare Dis. 2013 Oct 8;8:156. doi: 10.1186/1750-1172-8-156.
Fahr's disease or Fahr's syndrome is a rare, neurological disorder characterized by abnormal calcified deposits in basal ganglia and cerebral cortex. Calcified deposits are made up of calcium carbonate and calcium phosphate, and are commonly located in the Basal Ganglia, Thalamus, Hippocampus, Cerebral cortex, Cerebellar Subcortical white matter and Dentate Nucleus. Molecular genetics of this disease haven't been studied extensively; hence evidence at the molecular and genetic level is limited. Fahr's disease commonly affects young to middle aged adults. Etiology of this syndrome does not identify a specific agent but associations with a number of conditions have been noted; most common of which are endocrine disorders, mitochondrial myopathies, dermatological abnormalities and infectious diseases. Clinical manifestations of this disease incorporate a wide variety of symptoms, ranging from neurological symptoms of extrapyramidal system to neuropsychiatric abnormalities of memory and concentration to movement disorders including Parkinsonism, chorea and tremors amongst others. Diagnostic criteria for this disease has been formulated after modifications from previous evidence and can be stated briefly, it consist of bilateral calcification of basal ganglia, progressive neurologic dysfunction, absence of biochemical abnormalities, absence of an infectious, traumatic or toxic cause and a significant family history. Imaging modalities for the diagnosis include CT, MRI, and plain radiography of skull. Other investigations include blood and urine testing for hematologic and biochemical indices. Disease is as yet incurable but management and treatment strategies mainly focus on symptomatic relief and eradication of causative factors; however certain evidence is present to suggest that early diagnosis and treatment can reverse the calcification process leading to complete recovery of mental functions. Families with a known history of Fahr's disease should be counseled prior to conception so that the birth of affected babies can be prevented. This review was written with the aim to remark on the current substantial evidence surrounding this disease.
Fahr 病或 Fahr 综合征是一种罕见的神经紊乱疾病，其特征是基底节和大脑皮层中存在异常钙化沉积。钙化沉积物由碳酸钙和磷酸钙组成，通常位于基底节、丘脑、海马体、大脑皮层、小脑皮质下白质和齿状核。该疾病的分子遗传学尚未得到广泛研究；因此，分子和遗传水平的证据有限。 Fahr 病通常影响中青年成年人。该综合征的病因尚未确定特定的原因，但已注意到与许多疾病有关联；最常见的是内分泌紊乱、线粒体肌病、皮肤异常和传染病。该疾病的临床表现包括多种症状，从锥体外系神经系统的神经症状到记忆和注意力的神经精神异常，再到运动障碍，包括帕金森病、舞蹈病和震颤等。该疾病的诊断标准是在以前的证据基础上进行修改后制定的，可以简要地表述为：双侧基底节钙化、进行性神经功能障碍、无生化异常、无感染、创伤或毒性原因以及明显的家族史。诊断该疾病的成像方式包括 CT、MRI 和颅骨平片。其他检查包括血液和尿液检查以评估血液学和生化指标。该疾病目前无法治愈，但管理和治疗策略主要集中在症状缓解和消除致病因素上；然而，有一定的证据表明，早期诊断和治疗可以逆转钙化过程，从而完全恢复精神功能。已知 Fahr 病家族史的家庭应在受孕前进行咨询，以防止受影响婴儿的出生。本综述的目的是强调围绕该疾病的现有大量证据。
