most common form of dementia in older people

Normal communication between nerve cells is blocked in Alzheimer's disease and includes:

Also referred to as “early onset” because symptoms start before age 65

Familial Alzheimer’s Disease is

Familial Alzheimer’s Disease is attributed to one of three mutations

AD pathogenesis is triggered by the accumulation of the Aβ, due to ________ and/or the ______ of clearance mechanisms.

Aβ oligomers and plaques:

Late onset, develops after age 65

Sporadic Alzheimer’s Disease: APOE gene found on chromosome ___

AD risk ______ with the presence of one or two copies of APOE e4 allele

Sporadic Alzheimer’s Disease: ________ penetrance of APOE e4

Hyperphosphorylated tau in helical filaments is insoluble, and disrupts microtubule function, causing ______

Diagnostic Clues of AD:

-Memory problems

-Visuospatial abilities

Diagnostic Clues of AD:

-Personality changes

-Behavioral difficulties

-Hallucinations

Diagnostic Clues of AD:

-Near-mutism; inability to sit up, hold up head, or track objects with eyes

-Difficulty with eating and swallowing, weight loss

-Bowel or bladder incontinence

-Recurrent respiratory or urinary tract infections

First genetic disease mapped

The age of onset for Huntington's disease is typically between ______ years, with a peak around ___ years

Appears to be the only human disorder of complete dominance- manifestation

Mutation of HD gene on chromosome ___ codes for Huntingtin protein

Beginning with ___ CAG repeats, all affected individuals will develop Huntington disease

_____ correlation between the number of repeats and the age of onset of Huntington's disease

Inheritance from _____ results in clinical disease 3 years earlier [Huntington's disease]

The size of the CAG trinucleotide repeat often ______ in size from one generation to the next

A _____ number of repeats is usually associated with earlier onset of signs and symptoms.

a benign, encapsulated tumor resulting from proliferation of Schwann cells that are of ectodermal (neural crest) origin and that form a continuous envelope around each nerve fiber of peripheral nerves.

Neurofibroma: autosomal _____ genetic disorder

more common type

The hallmark of ____ is the presence of at least six café-au-lait spots

-Neurofibromas, Neurofibro-sarcomas

-Optic nerve Gliomas

-Pigmented cutaneous macules (café au lait spots)

-Pigmented nodules of iris (Lisch nodules)

-Bilateral Schwannomas of CN VII

-Multiple meningiomas

-Spinal cord Ependymomas

This variant is characterized by the development of noncancerous tumors called schwannomas on the nerves that control hearing and balance (auditory and vestibular nerves)

Neurofibromatosis type 1 (von Recklinghausen disease) is caused by a mutation in the NF1 gene (chromosome __) that encodes for neurofibromin

Neurofibromatosis type 1 (von Recklinghausen disease) is caused by a mutation in the NF1 gene (chromosome 17) that encodes for _______

NF 2 inherited in autosomal dominant pattern caused by mutation in the NF2 gene that encodes ______ (chromosome 22)

NF 2 inherited in autosomal dominant pattern caused by mutation in the NF2 gene that encodes merlin (chromosome ____)

________, an intracellular signaling molecule of the RasGAP (Ras GTPase activating protein) signal cascade.

A normal NF1 gene is a __________

____ of tumor suppression in NF1 mutations allows neurofibromas to form

Merlin is a ___________, and the mutation leads to the formation of schwannomas

______ is a tumor suppressor gene, and the mutation leads to the formation of schwannomas

Merlin is a tumor suppressor gene, and the mutation leads to the formation of ________

Loss of tumor suppression in NF1 mutations allows _______ to form