Last month, "Martial Arts Queen" Ms. Cheng Peipei passed away in San Francisco, USA at the age of 78. As early as 2019, Zheng Peipei was diagnosed with neurodegenerative atypical parkinsonism, informally known as corticobasal degeneration (CBD), a unique and complex rare neurodeg

Last month, "Martial Arts Queen" Ms. Zheng Peipei passed away in San Francisco, USA at the age of 78.

As early as 2019, Zheng Peipei was diagnosed with neurodegenerative atypical parkinsonism, whose informal name is corticobasal degeneration (CBD), a unique and complex rare neurodegenerative disease. , It has similar symptoms to Parkinson's disease but completely different pathological mechanisms. Current treatments cannot alleviate the condition.

Her experience not only made the public pay more attention to this rare disease, but also allowed us to see the tenacity and courage of patients to fight against the disease. Zheng Peipei chose to donate her brain for medical research, which made a valuable contribution to the research and development of CBD.

What kind of rare disease is Zheng Peipei suffering from? How to identify it in the early stage? Is it hereditary? How to intervene in treatment? A genetic expert from Changsha CITIC Xiangya Reproductive and Genetic Hospital, will give you a detailed explanation.

1. Definition and characteristics of CBD

CBD is a chronic progressive neurodegenerative disease. Its clinical features mainly include asymmetric onset of akinetic tonic syndrome, apraxia, dystonia and abnormal posture.

These symptoms are often misdiagnosed as Parkinson's disease or other degenerative diseases in the early stages of the disease. It is not until the disease gradually worsens that its unique pathological characteristics are revealed.

2. Clinical manifestations of CBD

The clinical manifestations of CBD are diverse. The main symptoms of CBD include:

. Movement disorders: including stiffness, tremor, bradykinesia and unstable posture.

. cognitive impairment : including decline in memory, attention, executive function and language ability.

. Affective disorders: including depression , anxiety, irritability and social impairment.

. Visual impairment: including vision loss, visual field loss and eye movement disorders.

. Behavioral disorders: including impulse control disorders, obsessive-compulsive behaviors, etc.

3. Pathological mechanism of CBD

The pathological changes of CBD are mainly concentrated in the cerebral cortex and basal ganglia areas, manifesting as the accumulation of abnormal tau protein in neurons and glial cells.

The accumulation of tau protein can lead to neuron damage or even death , which can lead to a series of clinical symptoms. It is worth noting that abnormal deposition of tau protein is also one of the common features of other neurodegenerative diseases such as Alzheimer's disease, which further emphasizes the complex relationship between CBD and other diseases.

IV. Diagnosis and treatment of CBD

▲ Picture from: Chinese expert consensus on diagnostic criteria and treatment of corticobasal degeneration

doi:10.3969/j issn . 1006-2963. 2019. 04. 002

cbd The diagnosis depends on comprehensive clinical manifestations and imaging Examination and pathology.Although conventional imaging examinations such as mri (i.e. magnetic resonance imaging) may not have obvious symptoms in the early stages of CBD, advanced imaging technologies such as pet (positron emission computed tomography) can detect the patient's contralateral basal ganglia and cerebral cortex glucose metabolism significantly reduced, which is of great value for early diagnosis. However, due to the rarity and complexity of CBD, its diagnosis still faces many challenges.

At present, scientific research has not given a clear answer to the heritability of CBD. Some studies have shown that CBD may have a genetic predisposition, but this predisposition may be related to multiple genetic variations, and a specific causative gene has not yet been discovered.

Unfortunately, there is currently no effective treatment that can slow down the progression of CBD. Although some drugs such as dopa drugs have shown good efficacy in Parkinson's disease, they are mostly ineffective in CBD patients. Therefore, early detection, early diagnosis and early intervention are particularly important for CBD patients. The symptoms of

cbd are diverse and complex, covering many aspects such as movement, cognition, behavior, sensation and vision. The occurrence of these symptoms not only has a significant impact on patients' physical health, but also poses serious challenges to their mental health and quality of life. Therefore, for CBD patients, in addition to drug treatment, comprehensive rehabilitation training and psychological support are also very important. As a rare and complex neurodegenerative disease, the diagnosis and treatment of CBD are full of challenges. Scientists are working hard to find more effective treatments in the hope of curing the disease.

It is very important for patients and their families to maintain a positive attitude, seek professional medical help, and participate in scientific research.Let us work together to light up the light of hope for CBD patients!

Hunan Medical Chat Special author: Dai Jing, Genetic Center of Changsha CITIC Xiangya Reproductive and Genetic Hospital

(editor yt)