Concept
It is a group of neurodegenerative diseases with ataxia as the main manifestation, and the lesions mainly involve the spinal cord, cerebellum and brainstem.
Classification
I. Hereditary ataxia
1) Autosomal dominant cerebellar ataxia (ADCA)
(1) Spinal cerebellar ataxia (SCA)
(2)Autosomal dominant episodic ataxia (EA)
2) Autosomal recessive cerebellar ataxia (ARCA)
II. Sporadic ataxia
1) Acquired ataxia
(1) Acquired ataxia is common in ethanol, formaldehyde, sodium phenytoin, toluene, heavy metal poisoning
Alcoholic cerebellar degeneration (ACD): ACD is a chronic cerebellar disease, mainly seen in middle-aged men who have been addicted to alcohol for a long time. It is one of the most common types of chronic ataxia. The lesions mainly involve the cerebellar earth and the adjacent cerebellar cortex, and in some cases only the pyramidal tract. The corresponding clinical symptoms are mainly severe gait abnormalities and lower limb ataxia, with milder upper limb, articulatory and oculomotor symptoms. A variety of toxic reactions occur.
(2) Vitamin deficiency acquired ataxia is commonly associated with VB1, VB12, VE deficiency
Vitamin E deficiency: Vitamin E deficiency is mainly caused by malabsorption due to various gastrointestinal diseases. The main diseases that can cause vitamin E deficiency include celiac disease, gallbladder fibrosis, short bowel syndrome, etc. Ataxia caused by vitamin E deficiency mainly manifests as postural and gait ataxia, dysarthria, sensory neuropathy and loss of tendon reflexes.
(3) Immune-acquired ataxia
a. Paraneoplastic cerebellar degeneration
1) It is a group of immune-mediated degenerative diseases of the cerebellum and is one of the most common paraneoplastic neurological disorders.
2) The average age of onset is 63 years and the onset is subacute. Most patients have symptoms that worsen over weeks or months and lead to paralysis
3)Patients with PCD mainly present clinically with simple cerebellar ataxia, often symmetrical, mostly accompanied by dysphagia, nystagmus, and diplopia.
4) Ataxic symptoms can precede prodromal symptoms (flu, nausea, vertigo, etc.) a
b. The presence of anti-GAD (glutamic acid decarboxylase) antibodies in the serum of ataxia can also manifest as a variety of autoimmune syndromes, such as
insulin-dependent diabetes mellitus, rigid man syndrome, hypothyroidism
Anti-GAD ataxia: Patients with antibodies to GAD in the serum can present with a variety of autoimmune syndromes, such as
stiff person syndrome, insulin-dependent diabetes mellitus, hypothyroidism. Ataxia can be one of these clinical conditions and is mostly seen in women. It is characterized clinically by slowly progressive cerebellar ataxia symptoms and MRI cerebellar atrophy in approximately half of patients. The diagnosis relies on the detection of GAD antibodies in the serum, but no definitive efficacy has been reported for steroid hormones and intravenous immunoglobulin for Anti-GAD ataxia.
c. Gluten ataxia is one of the most common types of disseminated cerebellar ataxia and is caused by gluten-allergic autoimmunity.
Gluten ataxia (GA): GA is an autoimmune disease that involves the cerebellum due to gluten allergy. gA has a late onset and presents mainly as gait ataxia, often with signs and symptoms of peripheral nerve damage and other autoimmune diseases. Diagnosis is based on the detection of AGA in the serum. Early diagnosis of the disease and treatment with a gluten-free diet can help improve the symptoms of ataxia and stop its progression in patients with GA.
(4) Central nervous system infectious acquired ataxia Acute cerebellar ataxia can be a complication of multiple pathogenic infections and has a relatively good prognosis, with full recovery within weeks Some chronic neurological infectious diseases cause progressive ataxia. The most common diseases include spinal syphilis, Lyme disease, Whipple disease, acquired immunodeficiency syndrome, and Creutzfeldt-Jakob disease.
(5) Central nervous system surface iron deposition disorder
Characterized by deposition of free iron or iron-containing heme along and under the soft membranes of the brain and spinal cord, resulting in damage to the cerebellar cortex, snail nerves, cerebral cortex, and spinal cord Clinical symptoms include progressive cerebellar ataxia, hearing loss, and damage to the pyramidal tract.
1) The age of onset varies from 14 to 77 years and the duration of the disease is l to 38 years.
2) A widely accepted etiology is recurrent subarachnoid hemorrhage, which can be caused by hemangiomas or vascular variants
3) The diagnosis of CNS surface iron deposition relies on the presence of linear low signal on the surface of the brain and spinal cord seen on magnetic resonance magnetic susceptibility weighted imaging.
4) A recent study has shown that magnetic resonance magnetic susceptibility weighted imaging (SWI) shows more pronounced iron-containing heme deposits than T2-weighted imaging, and that SWI can detect some intracerebral hemorrhages, thus providing clues to the underlying cause of surface iron deposition
2) Genetic disorders
(1) Autosomal recessive disorders with adult onset include Friedreich’s ataxia
(2) Autosomal dominant disorders with ominous family history
(3) Non-hereditary neurodegenerative ataxias
(1) MSA-C (multiple system atrophy cerebellar type)
(2) Idiopathic late-onset cerebellar ataxia (SAOA)