Causes of cerebellar ataxia

Cerebellar ataxia (etiological classification)

I. Dysgenesis of the cerebellum

1. Hypoplasia
2. Dandy-Walker malformation
3. Arnold-Chiari malformation

II. Hereditary and degenerative diseases

1. Storage diseases: lipidoses, glycogen metabolism disorders, leukoencephalopathies (abetalipoproteinemia Bassen-Kornzweig, Refsum disease, Tay-Sachs disease, Niemann-Pick disease, metachromatic leukodystrophy, ceroid lipofuscinosis, sialidosis, Lafora disease)
2. Amino acid metabolism disorders, mitochondrial enzyme deficiency and other metabolic disorders (deficiency of transcarbamylase, arginine succinate, arginase; Hartnup disease, Leigh disease, pyruvate dehydrogenase deficiency, mitochondrial myopathy).
3. Chromosomal disorders (Von Hippel-Lindau disease, ataxia-telangiectasia)
4. Multiple system atrophy
5. Wilson-Konovalov disease
6. Autosomal recessive (Friedreich's ataxia, early-onset ataxias), autosomal dominant (dentato-rubro-pallido-Lewis atrophy, Machado-Joseph disease, episodic ataxias type 1 and type 2) and X-linked recessive spinocerebellar ataxia.

III. Acquired metabolic and nutritional disorders

1. Toxins
2. Malnutrition and syndromes associated with alcoholism (alcoholic cerebellar degeneration, vitamin E deficiency)

IV. Infections

1. Viral infections (subacute sclerosing panencephalitis, chickenpox, measles, parainfluenza infections, herpes simplex, postinfectious disseminated encephalomyelitis, mumps, cytomegalovirus infection)
2. Non-viral infections (toxoplasmosis, mycoplasma infection, Legionnaires' disease)
3. Prion diseases (Creutzfeldt-Jakob disease, Gerstmann-Straeussler disease)

V. Vascular diseases

1. Hemorrhagic stroke
2. Ischemic stroke

VI. Tumors

1. Primary tumors (astrocytoma, medulloblastoma, neuroma, meningioma)
2. Metastatic tumor
3. Paraneoplastic cerebellar disorder

VII. Demyelinating diseases

1. Central nervous system (multiple sclerosis)
2. Peripheral nervous system (Miller Fisher syndrome)

VIII. Basilar migraine

IX. Iatrogenic (drug-induced) ataxia

1. Diphenin
2. Carbamazepine
3. Barbiturates
4. Lithium
5. Piperazine
6. Other

Cerebellar ataxia (some clinical markers of diseases)

Impaired consciousness:

Cerebellar hemorrhage or infarction; intoxication; nonconvulsive status epilepticus.

Mental retardation:

Ataxic cerebral palsy; congenital ataxias; some early-onset hereditary ataxias; xeroderma pigmentosum.

Dementia:

Hydrocephalus; some "degenerative" ataxias; Gerstmann-Sträussler syndrome; Creutzfeldt-Jakob disease.

Optic Nerve Atrophy:

Multiple sclerosis; Friedreich's ataxia; other hereditary ataxias; alcoholism.

Retinopathy:

Some hereditary ataxias; mitochondrial encephalopathies.

Eye movement apraxin (ocular motor apraxia): ataxia-telangiectasia.

Supranuclear ophthalmoplegia:

Autosomal dominant ataxias; idiopathic late-onset ataxias; hexosaminidase deficiency; Niemann-Pick disease (type C).

Internuclear ophthalmoplegia:

Multiple sclerosis; Wernicke's encephalopathy (rare); "degenerative" ataxias.

Ptosis, paralysis of the external eye muscles:

Mitochondrial encephalomyopathies; Wernicke's encephalopathy; Leigh disease.

Paralysis of the III, IV and VI cranial nerves:

Infarction; hemorrhage; multiple sclerosis; space-occupying process in the posterior cranial fossa.

Ocular flutter, opsoclonus:

Viral cerebellitis; paraneoplastic syndromes.

Downward beating nystagmus:

Processes in the area of the foramen magnum; "degenerative" ataxia.

Extrapyramidal syndromes (dystonia, chorea, muscle rigidity):

Wilson-Konovalov disease; dominantly inherited and sporadic late-onset ataxias; ataxia-telangiectasia.

Myoclonus:

Mitochondrial encephalomyopathies; multiple carboxylase deficiency; ceroid lipofuscinoses; sialidosis; Ramsay Hunt syndrome; nonconvulsive status epilepticus; some autosomal dominant ataxias.

Hyporeflexia or areflexia, often with decreased proprioception and vibration sense:

Friedreich's ataxia; other hereditary or "degenerative" ataxias; alcoholic cerebellar degeneration; vitamin E deficiency; hypothyroidism; ataxia-telangiectasia; xeroderma pigmentosum; leukodystrophies; Miller Fisher syndrome.

Deafness:

Some hereditary ataxias; mitochondrial encephalomyelopathies.

Brittle, fragile hair:

Arginine succinase deficiency (an inherited autosomal recessive disorder) characterized by delayed physical and mental development; epilepsy; ataxia; impaired liver function; brittle and patchy hair; and increased excretion of arginine succinic acid.

Hair loss:

Thallium intoxication; hypothyroidism; adrenoleukomyeloneuropathy.

Low hairline:

Malformation in the area of the craniovertebral junction and foramen magnum.

Skin changes:

Telangiectasias, especially in the conjunctiva, nose, ears, flexor surfaces of the extremities (ataxia-telangiectasia); sensitivity to light, skin tumors (pigmented xeroderma); pellagra-like rash (Hartnup disease); dry skin (hypothyroidism, Refsum disease, cocaine syndrome); pigmentation (adrenoleukomyeloneuropathy).

Changes in the eye area:

Telangiectasias; Kayser-Fleischer ring (Wilson-Konovalov disease); retinal angioma (Von Hippel-Lindau disease, accompanied by cerebellar hemangiomas); cataract (congenital rubella, cholesterolosis, Sjogren-Larson syndrome, mitochondrial encephalomyopathy); aniridia (Gilepsie syndrome, manifested by congenital absence of the iris, mental retardation and cerebellar ataxia).

Fever:

Fever may increase the manifestations of intermittent metabolic ataxia; fever may be a manifestation of cerebellar abscess, viral cerebellitis, cysticercosis.

Vomit:

Cerebellar hemorrhage or infarction; acute demyelination; space-occupying lesion in the posterior fossa; intermittent metabolic ataxia.

Hepatosplenomegaly:

Niemann-Pick disease type C; Wilson-Konovalov disease; alcoholism; some metabolic ataxias of childhood.

Heart disease (cardiomyopathy; conduction disorders): Friedreich's ataxia.

Short stature:

Mitochondrial encephalomyopathy, ataxia-telangiectasia, cocaine syndrome, Sjogren-Larsen syndrome.

Hypogonadism:

Recessive ataxia with hypogonadism; mitochondrial encephalomyopathy; ataxia-telangiectasia; adrenoleukomyeloneuropathy; Sjogren-Larsen syndrome.

Skeletal deformities:

Friedreich's ataxia; Sjogren-Larsen syndrome and other early-onset cerebellar degenerations; hereditary sensory and motor neuropathies.

Immune deficiency:

Ataxia-telangiectasia; multiple carboxylase deficiency.

Eating disorders:

Vitamin E deficiency; alcoholism.

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