Ataxia focusing on inherited ataxia Presented by: Vidyaningtyas

Ataxia focusing on inherited ataxia Presented by: Vidyaningtyas

Ataxia focusing on inherited ataxia Presented by: Vidyaningtyas BA, MD Yanuarita T, MD Widagdo S, MD Ataxia at glance Inability to make smooth, accurate and coordinated

movements, usually due to a disorder of the cerebellum and / or sensory pathways in the posterior column of the spinal cord . Ataxia at glance Inability to make smooth, accurate and coordinated movements, usually due to a disorder of the cerebellum and / or sensory pathways in the posterior column of the spinal cord .

Types: Cerebellar ataxia Sensory ataxia Vestibular ataxia Ataxia at glance Inability to make smooth, accurate and coordinated movements, usually due to a disorder of the cerebellum and / or sensory pathways in the posterior column of the spinal cord .

Types: Cerebellar ataxia Sensory ataxia Vestibular ataxia Due to dysfunction of the cerebellum. Accompanied by hypotonia, asynergy, dysmetria, dyschronometria, and dysdiadochokinesia. Classified as vestibulocerebellum, spinocerebellum, cerebrocerebellum.

Ataxia at glance Inability to make smooth, accurate and coordinated movements, usually due to a disorder of the cerebellum and / or sensory pathways in the posterior column of the spinal cord . Types: Cerebellar ataxia Sensory ataxia Vestibular ataxia

Due to dysfunction of the cerebellum. Accompanied by hypotonia, asynergy, dysmetria, dyschronometria, and dysdiadochokinesia. Classified as vestibulocerebellum, spinocerebellum, cerebrocerebellum. Ataxia at glance Inability to make smooth, accurate and coordinated

movements, usually due to a disorder of the cerebellum and / or sensory pathways in the posterior column of the spinal cord . Types: Cerebellar ataxia Sensory ataxia Vestibular ataxia due to loss of proprioception - the loss of sensitivity to the positions of joint and body parts

Rombergs test positive, ataxic hand Ataxia at glance Inability to make smooth, accurate and coordinated movements, usually due to a disorder of the cerebellum and / or sensory pathways in the posterior column of the spinal cord . Types: Cerebellar ataxia Sensory ataxia

Vestibular ataxia due to dysfunction of vestibular system, may be associated with prominent vertigo, nausea, vomiting n A h S e

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a Ataxia at glance As one of the members of chronic symmetrical ataxia which is genetically based Inherited ataxia Harding A (1984) Congenital

Metabolic Defective DNA repair Degenerative J Neurol 2004;251:913-22 Michelle G et al (2004) Mitochondrial Metabolic Defective DNA repair Abnormal protein folding and degradation

Channelopathies Others Inherited ataxia Inherited ataxia Harding A (1984) Congenital Metabolic Defective DNA repair Degenerative

J Neurol 2004;251:913-22 Michelle G et al (2004) Mitochondrial Metabolic Defective DNA repair Abnormal protein folding and degradation Channelopathies Others

Mendelian: Autosomal dominant, Autosomal recessive, X-linked Neuro Sci 2001;21:219-28 Autosomal recessive Friedreich ataxia Commonest form among early onset autosomal recessive ataxia in Europe Defect at 9q13-q21.1 98% abnormally expanded GAA in

1st intron decreased frataxin expression J Neurol 2004;251:913-22 Friedreich ataxia Friedreich ataxia Commonest form among early onset autosomal recessive ataxia in Europe Defect at 9q13-q21.1 98% abnormally expanded GAA in 1st intron decreased frataxin expression

Paternal transmission shows contraction Clinical manifestation: progressive gait and limb ataxia, dysarthria, absent tendon reflexes, babinski signs, decreased vibration sense, sensory axonal peripheral neuropathy, cardiac hypertrophy, diabetes. J Neurol 2004;251:913-22 Friedreich ataxia Friedreich ataxia

Autosomal dominant SCA is the main example. After SCA1 was found in 1993, others named based on number Spinocerebellar ataxia Spinocerebellar ataxia

Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia X-linked (metabolic example) Deficiency of urea cycle enzyme deficiency of ornithine transcarbamylase as the most common hyperammonemia.

Lethal in male Female: no symptoms profound neurological impairment Clinical manifestation: irritability, episodic vomiting, ataxia, dysarthria, lethargy, coma, developmental delay, mental retardation, seizure. Treatment: low protein diet, arginine. X-linked (FXTAS) Fragile X-associated tremor/ataxia syndrome (FXTAS) is

characterized by tremor and cerebellar gait ataxia. caused by moderate expansions of a CGG trinucleotide in FMR1 gene The pathogenic mechanism is related to overexpression and toxicity of the FMR1 mRNA Clinical manifestation: intention tremor, cerebellar gait and limb ataxia, parkinsonism,decreased reflexes, orthostatic hypotension, impotence, progressive loss of bowel and bladder control. The pathological hallmark of FXTAS is the presence of intranuclear inclusions in neurons and astrocytes throughout the brain increased T2 signal intensity in white matter of the MCP

Treatment: low protei n diet, arginine. FXTAS TESTING GUIDELINES The Diagnosis inheritance pattern

Genetic counselli ng Molecular test,Prenat al Diagnosis Recurrenc e risk

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