contents Ataxia definition path physiology Causes History examination

contents § § § Ataxia definition path physiology Causes History & examination Investigations Overview on the most common causes

§ Defention: derived from greek word meaning irregularity § The coordination of movement depend on: § Cerebellum & its connection…. cerebellar ataxia( ataxia gait, limb incoordination, tremer, dysarthria, nystagmus) § Sensory feed back…. sensory ataxia (ataxia of gait &limb at dark, loss of proicption, +ve romberg test)

cerebellum § § § § Vestibulocerebellum” Input: vestibular , visual path Out put: feed back to the vestibular nuclie Lesion : disturbe equlibrum, wide base gait , nystagmus Spinocerebellum: Input ; somatosensory via the spinal cord Output: brain stem reticular , lateral vestibular nuclie Lesion : vermis truncal ataxia, lateral limb ataxia

cerebellum § § § Cerebrocerenellum: Input: cortico pontine Output: feedback dentate, thalamus. . cortex motor, premotor § Lesion: impair complex voulntry movement, smooth &persize

cont § Clinical assessment is complicated by the fact that few ataxic patient have pure cerebeller disease, additional pathology is often present, brain stem, spinal cord, . . § Ataxia also may be due to weakness

Ataxia causes § Acquired: § Hereditary: known metabolic defect not known metabolic defect

Acquired causes § § § Infection: posterior fosse abscess, cerebellitis Vascular: Hge, infarction, TIA Demyelinating: MS, Sensory PN( miller fisher) Malignancy: tumor Toxin &drug: INH, lithium, cyclosporin, cystosine arabiniside, phyntoin, procainamide § Paraneoplastic § Metabolic: vit E deficiency , hypothyroidism

hereditary § Known metabolic def § DNA repair defect § Unknown etiology

Hereditary known metabolic defect § Intermittent § Progressive

Hereditary causes § § § § § Ataxia is prominent feature Intermittent: Hyperammonimea, aminoacidurea, disorder of pyrvate &lactate Progreesive: Abetalipprotenimea Leukodystrophy: metachromatic Mitochondrial encephalomyopathy Wilson disease Sialdosis Other: hexamindase def, sphyngomylin storage dis, ceroid lipfuscinosis, cholstrenolosis……

Defect DNA repair § § § ataxia telengctasia Xerderma pigmentosa Cocakayne syndrome

Hereditary ataxia with unknown etiology(degenerative) § AR early on set before 20 y § Friedreichs ataxia § Early onset cerebellar ataxia with non fredreichs Retained tendon reflex Hypogonadism Myclonus Childhood defness Congintal defect optic atrophy +_ MR Cataract & MR Pigmented retinopathy § Late onset

Hereditary with unknown metabolic defec spinocerebllum degeneration § AR: <20 y § AD: >20 y

Herdiatry AD § ADCA I: ataxia, opthalmoplasia, optic atrophy, dementia, extraprymidal(include machado-joseph) § ADCA II: ataxia with pigment maculopathy+_ opthalmoplasia or extraprymidal sign § ACDAIII: pure ataxia § Periodic dominant ataxia

History &exam § onset § § Acute : vascular subacute: others Course: episodic( MS, drug, TIA, foramen magnum compression, intermittent hydrocephalus colloid cyst, inherited met, dominant periodic ataxia § Progressive: inherited, tumor, paraneoplastic, hydrocephalus, vit E deficiency , ms, hereditary motor sensory neuropathy

c/p § Opsclonus, ocular flatter: viral cerebellitis, Paraneoplastic § Extraprymidal: ataxia telngactasia, late onset ataxia, wilson disease § Myclonus: mitochondrial encephalopathy, sialidosis

C/P § Hyporeflxia: (loss of propiception): FA, other inherited degenerative, vit. E def, hypothyrodism, alcholic, miller fisher, leukodystrophy, PN, ataxia telengctasia, xerderma pigmentosa, refsum disease § Defness: several inherited ataxia, mitochodrial, refsum disease

c/p § Dementia: hydrocephalus, some degenerative § Optic atrophy: FA late, MS, inherit, alcholism § Retinopathy: mitochondrial encephalopathy

Systemic manifestation § Hair loss: hypothyrodism. § Skin: telengectasia conjactiva, nose, ears…ataxia Telengectasia § Light sensitivity: xeroderma pigmentosa § Dry skin: refsum, hypothyrodism, cockayan syndrome

systemic manifestation § Eye: kayser-fleisher ring(wilson) § catarct (mitochondrial encephalopathy) retinal angioma : von hipple lindau § Fever: abscess, cerebillites § Vomiting: stroke, tumor, metabolic § Hepatomegaly: wilson § Heart disease: cardiomyopathy FA, conduction block. (. mitochondrial encephalopathy)

other § § § Immune deficiency : AT Malnutrition: vit E def, alcholism Skeletal deformity: FA, other early onset spinocerebeelum degeneration, hereditary motor &sensory neuropathy § Hypogonadism: mitochondrial, AT.

investigation § § § R/O acquired causes : CT brain, MRI LP EMG, NCS TFT lipid

Look for degenerative ataxia test lipid Early onset hyporeflex Late >20 y Vit E hyporeflex MRI, CTbrain Y y Alpha feto Ig. G y y no no VLCFA, ACTH ceroplasmin male Y lactate genetic y y

FA § § § § § The most common of AR ataxia, 50% of heridatry ataxia Gene map chr: 9 q 13, trinucletide repeared disease Pathology: Spinal cord: Postrior colum (loss of reflex) Corticospinal tract(weakness , upgowing toes) Spinocerebeller: ataxia, dysarthria Loss of purkinge cell in cerebellum, pontine medulla, optic n PN Mycardial muscle fiber

C/P § § § § Onset: < 25 y Begin gait ataxia early, dysarthria later PN, sensory &cerebeller ataxia Weakness Optic atrophy 25%, defness 10% O/E: pescavus , hammertoes, kyphlscliosis Cardiomyopathy Dec or absent reflex, loss vibration, up going toes, ataxia , dysarthria, romberg +ve

diagnosis § § § § Clinical Lab: MRI brain: early n, then cerebeller atrophy MRI spine: may atrophy cervical part NCS: sensory absent in LL, slow in UL ECG: wide spread T wave , VH ECHO: symetrical cocentric VH Gene study