Varieties of olivopontocerebellar atrophy and diagnostic methods
Olivopontocerebellar atrophy is a concept that unites a group of diseases in which degenerative changes are observed in some structures of the brain.
These diseases have both sporadic forms and hereditary origin in the autosomal recessive and autosomal dominant trait. The following are affected:
- Bridge( olives, ventral nuclei and fibers).
- Cerebellum( legs and white matter).
- Spinal cord( conduction of the anterior horns and basal ganglia).
Characteristic common features of the pathology of
Despite the fact that this group of diseases is characterized by some differences( the presence of damage to the mesh shell of the eyes and oculomotor nerves, the presence or absence of internal carcinoma, the degree of severity of mental disorders), it has certain common features.
- Changing behavioral reactions, the development of dementia.
- The problem of coordination and coordination of movements, which is due to cerebellar lesions.
- Manifestations of symptoms reminiscent of Parkinson's disease. Occur due to extrapyramidal disorders.
- Atony and atrophic changes in muscles.
- Lesion of the oculomotor nerve.
The last two clinical signs are not present in all variants of this group of diseases.
The initial stages appear in people after 40 years, but sometimes the pathology manifests a little earlier, and even less often occurs in childhood. The first symptoms are expressed in ataxia, the gait in the patient changes, becomes uncertain, discoordination is observed. After that, there is joining of the trembling of hands and head. Sometimes peripheral tendon reflexes may increase, complaints about urinary incontinence arise.
In the advanced stage, the doctor notes the patient's expressed mental abnormalities, Parkinson type syndrome, vision impairment, depressive condition. Bulbar disorders, ophthalmoplegia, paresis, including those related to facial muscles, tendon reflexes may decrease or may be absent altogether.
Hereditary variants of the disease
Several main nosological variants of olivopontocerebellar atrophy are distinguished. Each of them has some similarity of clinical manifestations, but also differs in certain features.
Mendel Atrophy
For this disease, its slow progression is characteristic, it is inherited by an autosomal dominant type. For the first time it can be diagnosed at the age of 11 to 60 years. It is characterized by signs of ataxia, changes in speech function, hand trembling, impaired swallowing, decreased tone and hyperkinesia. Sometimes there may be abnormalities associated with the pathology of the oculomotor nerves.
Fickler-Winkler Degeneration
It is observed in people from 20 to 80 years old, inheritance of it has an autosomal recessive mechanism. The main manifestation is ataxia of the limbs while maintaining motor activity.
Retinal atrophy
Beginning at a fairly young age, heredity is manifested in an autosomal dominant type. A characteristic feature is the retinal pigment atrophy of the eye. In addition, there is a development of ataxia and other signs of damage to the cerebellum. Sometimes extrapyramidal deviations occur.
Type of Jester-Haymaker
Begins in childhood or adolescence. Passes on an autosomal dominant variant of inheritance. Disturbances in this case are in the cerebellar signs of the lesion, as well as facial paralysis, bulbar( speech, swallowing) and vibrational abnormalities.
Olivopontocerebellar atrophy of the Carter
It was described by Carter and his co-authors Chandler and Bibin. The disease is inherited by autosomal dominant type, occurs most often in the region of 40 years. In addition to the manifestations of cerebellar pathology, the signs of extrapyramidal disorders, parkinsonian symptoms, and changes in intelligence are clinically revealed.
Diagnosis criteria for
The diagnosis of olivopontocerebellar atrophy is based on clinical manifestations and with the help of additional research methods. Since the diseases are hereditary, DNA diagnosis is performed, as well as CT and MRI.Confirmation of the disease occurs with pneumo-ecephalography.
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