Neuro-genetics/Neurometabolic Disorders Flashcards
What is pompe disease
Adult onset presentation of lysosomal storage disorder (acid Maltese deficiency) presents with progressive girdle muscle weakness
What is the clinical presentation of Fabry disease
Recurrent bouts of extremity pain triggered by excessive exercise or illness(acroparesthesias)
Multiple red telamgiectic skin lesion clustered on the lower abdomen and groin region (angiokeratoma)
Recurrent stroke
test for alpha-galactosidase activity in WBCs this is an x-linked lysosomal storage disorder
Corneal opacity, progressive renal dysfunction and arthritis can also develop along with left ventricular enlargement valvular disease, coronary artery disease and conduction abnormalities
How does adult onset Tay-Sachs present
Also known as GM2 gangliosidosistypically present with psychiatric manifestations with lower motor neuron and cerebellum dysfunction
What are typical adult onset lysosomal storage disorders
GM2 gangliosidisis, neuronal ceroid lipofuscinosis, metachromatic leukodystrophy, Nieman-Pick type C
How does sialidosis type 1 present
Progressive treatment resistant polymyoclonus with the prominent cherry red spot on ophthalmologic examination
How do adult onset urea cycle disorders such as ornithine transcarbamylase deficiency present
Severe hyperammonemia and diffuse cerebral Edema following a fasting or catabolic state
What are the diagnostic criteria for NF1 or Von Recklinghausen disease
Having two or more of the following:
(1) six are more café au lait spots, (2) to are more Lisch nodules i.e. pigmented nodules on the iris (3) optic glioma, (4) two are more neurofibromas or one plexiform neurofibroma, (5) A 1st° relative with NF1, (6) Sphenoid dysphasia
What are characteristic features of chorea-acanthocytosis
This is a subtype of neuroacanthocytosis. Characteristic features include Chorea orolingual dystonia, seizures, cognitive and behavioral disturbances, neuropathy and myopathy.CPK is usually elevated neuro imaging shows atrophy of the caudate heads and peripheral smear shows acanthocytes.
What are genetic abnormalities in Chorea-acanthocytosis
Autosomal recessive mutations in VPS13A gene which encodes the protein chorein
What are the genetics of Huntington’s disease
Expanded number ofCAG repeats in the HD/iT15 gene on chromosome 4. Autosomal dominant inheritance
What are features and genetics of Kearns-Sayre Syndrome (KSS)
CPEO and pigmentary retinopathy together with either complete heart block, a CSF protein level greater than 1 g/L or ataxia. The patient is likely to have a high proportion of mitochondria processing a 4.2 KB deletion of mtDNA compared to wild type mtDNA
What are characteristics of SCA type 3
This is also known as Machado/Joseph disease . This is most often associated with Portuguese ancestery symptoms include dystonia, parkinsonism, neuropathy, dysarthria, dysphasia and spasticity including ataxia particular to this disorder is I would retraction leading to the staring parents of the eyes
