1. ataxia

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

3. 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)

4. 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

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

6. 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

7. Ataxia causes Acquired: Hereditary: known metabolic defect
not known metabolic defect

8. 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

9. hereditary
Known metabolic def
DNA repair defect
Unknown etiology

10. Hereditary known metabolic defect
Intermittent
Progressive

11. 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……

12. Defect DNA repair ataxia telengctasia Xerderma pigmentosa
Cocakayne syndrome

13. Hereditary ataxia with unknown etiology(degenerative)
AR early on set before 20y
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

14. Hereditary with unknown metabolic defec spinocerebllum degeneration
AD: >20y

15. 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

16. 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

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

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

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

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

21. 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)

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

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

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

25. FA The most common of AR ataxia, 50% of heridatry ataxia
Gene map chr: 9q13,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

26. C/P Onset:< 25y 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

27. 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

28. thanks