Autosomal Dominant Cerebellar Ataxia outline

Sources:

-“Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics”

-”Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics”

-“Cell Biology of spinocerebellar ataxia”

Outline:

1. Introduction

good definition of ataxia and autosomal

2. Pathology

ADCA Type 1

SCA1: Ataxia type I (the most frequent): motor impairment (pyramidal), optic atrophy, oculomotor paralysis, intelligence disorders;

SCA2: Ataxia type II: retinal degeneration;

SCA3: Ataxia type III: pure cerebellar ataxia;

SCA4:

SCA8:

SCA10

SCA12

SCA13

SCA14

SCA15/16

SCA17

SCA18

SCA19

SCA20

SCA21

SCA22

SCA23

SCA25

SCA27

SCA28

DRPLA

SCA 6

Include a small bit about each disorder and link to the specific page.

Most common is SCA 3.

ADCA Type 2

SCA7

ADCA Type 3

SCA5

SCA6

SCA11

SCA26

SCA29

SCA30

SCA31

causative mutations only identified for half of these

mutations in protein kinase C and fibroblast growth factor 14

abormal expansion of a CAG repeat sequence that encodes for an expanded tract of polyglutamine (polyQ) residues within the mutated protein. It is the polyQ SCAs are the subject of the JCB REPRESS review

3. Symptoms

Symptoms onset ~ 25-45. In type I ataxia, equilibrium disorders present. Speech production disorders are a sign of cerebellum damage. Most frequently associated with the impairment of proprioception (perception of one's body parts in space). Later, paralysis of specific types of eye muscles, swallowing disorders, and impairment of the sphincter function can be associated to the primary condition. http://cirrie.buffalo.edu/encyclopedia/en/article/327/

4. Diagnosing The Condition: “Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics”

Obtain history of illness/detailed family history

Physical Examination

Neuroimaging depending on initial diagnosis

Magnetic Resonance Imaging (MRI)

Variable neuronal loss and gliosis in regions of the rhombencephalon more than diencephalon and telencephalon and spinal cord

5. Management/Possible Treatments: “Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics”

Occupational/Physical Therapy for gait dysfunction

Speech Therapy for dysarthria

Use of mechanical aids

Cane, Walker, Wheelchair

Recognize and effectively treat depression if noticeable