Definition: Ataxia is a term to describe loss of balance.The part of the brain that is involved in balance is at the back of the brain, attached to the
brainstem, and is called the "Cerebellum". Damage to the cerebellum or its connections will result in unsteadiness of walking, and clumsiness of hand and foot coordination.
Many conditions can cause the cerebellum to stop working normally.
Causes of Ataxia include a huge number of conditions:
These include drugs; Clonazepam, Tegretol, Phenobarb, Primidone, Dilantin and toxins including; acute alcohol
intoxication, alcoholism, solvent abuse , lead / mercury
Trauma to the cerebellum
Endocrine Disorders (diseases of the glands that release hormones)
Hypothyroidism Nutritional Deficiencies Vitamin B12 deficiency
Neoplastic (Tumor)Paraneoplastic (Associated with a distant tumor)
Vascular Causes (Stroke)
These include; vasculitis (inflamation of blood vessels eg. Lupus), angioblastoma (a tumor of the blood vessels),
embolism (a blood clot plugging a blood vessel), hemorrhage (a blood vessel rupturing and bleeding into the cerebellum), and Von-Hippel-Lindau Syndrome (a disorder of blood vessel formation),
Infectious Conditions Affecting the Cerebellum:
These include; syphilis, A.I.D.S., cerebellar abscess, Coxsackie virus, Diptheria, Mumps, Polio, Typhus,
Echovirus, Pertusis, Rubeola, Varicella, Infectious Mononucleosis, Mycoplasma, Infectious polyneuropathy, and Japenese B encephalopathy.
Degenerative Neurologic Conditions:
These include a large number of rare neurologic conditions as follows; Olivo-ponto-cerebellar Degeneration
(O.P.C.A.), Spinocerebellar Ataxias (S.C.A.1,2,3,4,5,6,7), Acute Disseminated Encephalomyelitis, Acute Intermintent Cerebellar Ataxia, Ataxia (with Retinitis Pigmentosa, deafness, vestibullar
abnormality, and intellectual dysfunction), Ataxia Telangiectasia, Cerebellar Ataxia (with deafness, anosmia, absent corneals, nonreactive pupils, and hyporeflexia), Dentate cerebellar atxia,
Familial Ataxia with macular degeneration, Familial intention tremor, ataxia, lipofuscinosis, Friedreichs ataxia, Hereditary ataxia (with intellectual retardation, choreoathetosis, and
eunuchoidism), Hereditary ataxia (with myotonia and cataracts), Hypertrophic interstitial neuritis, Marinesco-Sjogren Syndrome, Pelizaeus-Merzbacher disease, Periodic ataxia (with attacks of
vertigo, diplopia, and ataxia), Ataxia (with posterior, and lateral column difficulties, with nystagmus and muscle atrophy), Progressive cerebellar ataxia and epilepsy, Ramsy Hunt syndrome, and
Roussy-Levy syndrome
Inherited Metabolic Defects listed below:
Ataxia, retinitis, acanthocytosis, malabsorption, acanthocytes, low cholesterol, low Beta-Lipoprotein, and
absent LDL's
Arginosuccinic aciduria
Siezures, hypotonia, hepatomegally, tufted friable hair, child onset, increasd Arginosuccinic acid in plasma
Ceroid lipofuscinosis (Kufs Disease)
Seizures, ataxia, myoclonus, dementia, Hypertension. Exam shows cerebellar, pyramidal, and extrapyramidal
siggns. Increased Lipopigments Ceroid, and Lipofuscin on brain biopsy, Peripheral leukocyte vacoules, and ceroid engorged vacuoles on conjunctival biopsy
Gm2 gangliosidoses (Tay-Sachs)( Sandhoffs)
Hyperacusis,myoclonus, seizures, developemental delay. Onset in first months of life. Very low levels of
beta-hexosaminidase in serum, Leukocytes, and cultured fibroblasts
Neutral amminoaciduria (Hartnup disease)
Hyperalaninemia
Severe retardation, siezures, myoclonus, in childhood. Ketoacidosis, and increased alanine in urine, and serum
Hyperammonemia I and II;
Increased ammonia, Hypoglycemia
Galactocerebrosidase Lipidosis (Krabbe Disease)
Early oset of retardation, spasticity, siezures and optic atrophy (blindness). Unlikely to live past 2 years.
Macrocephaly,peripheral neuropathy,hyporeflexia. Adult syndrome consists of leukodysrophy, cortical blindness, and spasticity. Peripheral neuropathy is rare. Dx B-gaclactocerebrosidase
measurement.
Maple suryp urine disease
Rarely to live to age 5. Patients aquire spasticity, seizures, intermintant ataxia. Dx sweet smelling urine,
increased amino (branched) acids in urine.
Metochromatic Leukodystrophy
Patients aquire retardation, leukodystrophy, psychosis, and dementia. Dx increased csf protein, peripheral
neuropathy: Arylsulphatase def.
Niemann-Pick disease
Patients aquire retardation, seizures,ataxia. Dx by finding "Sea Blue" histiocytes in bone marrow,
supranuclear gaze palsy (upgaze). Vacuolated Lymphocytes, Sphingomyelinase def.
Hereditary atactica polyneuritiformis (Refsum disease)
Chronic neuropathy(motor and sensory (HMSN type IV), ataxia, increase csf protien,retinitis. Dx increased serum
Phytanic acid
Tryptophanuria
Wernike encephalopathy
Congenital (I.E. present at Birth)
A variety of structural brain deffects can present as Ataxia including: Agenesis of vermis, Dysplasia, of
cerebellum, Arnold-Chiari Malformation, Dandy Walker Malformation, Encephalocele, Platybasia and Hydrocephalus
Primary Emotional (reaction to stress)
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