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neurogenetics_acmg

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Term
Definition
Phakomatosis- definition and conditions   Definition: disorders of central nervous system that additionally result in lesions on the skin and the eye Conditions: Neurofibromatosis, Tuberous sclerosis, von Hipple Lindau  
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3 types of Neurofibromatoses   1.NF1 2.NF2 3.Schwannomatosis  
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Neurofibromatosis type 1 (NF1) inheritance frequency features gene/protein function   AD (complete) 1/3000 (most common NF) neurofibromas, cafe-au-lai macules, learning disabilities, skeletal dysplasia, gliomias, malignant peripheral nerve sheath tumors NF1 (chr17)/neurofibromin: GTPase activator (tumor suppressor- Ras signalling)  
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Neurofibromatosis type 2 (NF2) inheritance frequency features gene/protein function   AD (complete) 1:25,000 vestibular schwannomas; other schawannomas; meningiomas; ependymomas; cataracts NF2 (chr22)/merlin/schwannomin: cytoskeletal protein  
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Schwannomatosis inheritance frequency features gene/protein function   AD (incomplete) unknown schwannomas INI1/SMARCB1/ chromatin remodelling protein  
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NF1 diagnostic criteria   1.at least 6 cafe-au-lait macules 2.skin-fold freckles 3. 2 or more NFs/1 plexiform neurofibroma 4. 2 or more iris Lisch nodules 5. optic glioma 6. skeletal dysplasia (tibia , orbit) 7. affected 1st deg relative  
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Legius syndrome: clinical manifestation gene   multiple cafe-au-lait SPRED1 gene  
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NF2 diagnostic criteria   1.Bilateral vestibular schwanommas, or 2.1st deg relative w/ NF2 and (2 of the following) 3.meningioma 4.ependymoma 5.schwannoma 6.juvenile cataract/lens opacity  
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NF2 treatment   surgery clinical trials with bevacizumab  
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Tuberous sclerosis diagnostic criteria (major)   Major: 1.angiofibromas 2.ungual fibromas 3.hypomelanotic macules 4.shagreen patch 5.retinal hamartomas 6. astrocytoma 7.supependymal nodules 8.cortical dysplasias 9.cardiac rhabdomyoma 10.renal angiomyolipoma 11.lymphangioleiomyomatosis  
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Tuberous sclerosis complex inheritance frequency genes/protein function   AD (complete) 1/6,000 TSC1 (chr 9q34)/hamartin; TSC2 (chr16p13)/tuberin: tumor suppressor-mTOR inhibition  
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Tuberous sclerosis surveillance treatment   surveillance: development, seizures, SEGA, renal, pulmonary, eye treatment: everolimus for progressive SEGA or AML  
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Von Hippel Lindau clinical features   1.Hemangioblastoma (cerebellum, retinal, spinal cord) 2.Pheochromocytoma 3.Renal cell carcinoma 4.Endolymphatic sac tumor  
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Von Hippel Lindau surveillance   1.Opthalmology: annually till 10 yrs, then 6mo 2.Hearing: 2-3yrs to 10, 1-2yrs 3.brain:MRI w/gadolinium 1-2 yrs 4.kidney: abdominal imaging 1-2yrs 1 5.Pheochromocytoma: annual test catecholemines and metanephrines in 24 hr urine or blood  
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Von Hippel Lindau frequency inheritance gene/protein function treatment   1/36,000 AD (20% de novo) VHL/tumor suppressor-vascular response to hypoxia some clinical trials (angiogenesis inhibitors  
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Channelopathies: channel types   1.Nicotinic AchR 2.K channel 3.Na channel 4.GABA(A) receptor 5.Cl channel  
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Bradykinesia   slow movements  
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Dystonia   sustained muscle contraction resulting in abnormal posture  
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Chorea   sudden involuntary movement  
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Myoclonus   muscle jerking  
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Tremor   rhythmic oscillatory movement  
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Tic   sudden stereotyped motor movement or vocalization  
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Parkinsons 1.clinical 2.inheritance/genes   1.tremor, rigidity, bradykinesia 2.sporadic (most cases)/glucocerebrosidase -AD (rare)/ alpha-synuclein, LRRK2 -AR (rare)/ parkin, PINK1, DJ1,ATP13A2, PLA2G6, FBX07  
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Fragile X tremor syndrome (FXTAS) 1.clinical features 2.inheritance 2.mechanism   1.ataxia,intention tremor,short term memory loss, dementia,parkinson symptoms, >50 yrs 2.X-linked (premutation of repeat expansion) 3.FMR1 gene, CGG repeat expansion in 5'UTR results in sequestration of rCGG binding protein  
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Dystonia genes/inheritance   could be AD/AR/XL DYT1 (Torsin A on chr9q34): AD, GAG deletion most common, focal to generalized dystonia DYT5 (GTP cyclohyrolase l/tyrosine hydroxylase), AD inheritance, DOPA-responsive  
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Pantothene Kinase Associated Neurodegeneration 1.clinical 2.genetics   1.movement disorder (dystonia, choreoathetosis, rigidity); eye (RP, iron accum in basal ganglia) 2.AR, PANK2 mutation (kinase)  
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Huntington's disease 1.clinical features 2.genetics   1.depression, mood swings, dementia, motor (chorea, bradykinesia); early onset (paternal inheritance), peak onset 3rd/4th decades; caudate atrophy 2.huntingtin (chr4p16.3); CAG expansion (polyQ repeat)  
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Triplet Repeat disorders 1.Fragile X 2.Friedreich ataxia 3.SCA 4.Huntington disease 5.DRP atrophy 6.Spinal&bulbar atrophy 7.Machado-Joseph disease 8.myotonic dystrophy   1.CGG (5'UTR) 2.GAA (intron) 3.CAG (coding polyQ) 4.CAG (coding polyQ) 5.CAG (coding polyQ) 6.CAG (coding polyQ) 7.CAG (coding polyQ) 8.CTG (3'UTR)  
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Hereditary Ataxias (Name 3)   1.Spinocerebellar ataxias 2.Friedreich ataxia 3.Ataxia telangiectasia  
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Friedreich ataxia 1.clinical 2.genetics   1.ataxia,loss of DTR's; pes cavus; extensor plantars; HCM; DM 2.AR; GAA repeat (intronic) 5-33 nl; 34-65 premut; 44-66 preclin; 66-1,700 mut SNVs may occur results in impaired mitochondrial Fe metabolism  
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Ataxia telangiectasia 1.clinical 2.genetics   1.ataxia, telangiectasia (small, widened blood vessels on the skin.), immune deficiency 2.abnormalities on chr 7 & 14 (Ig chains and T cell receptor ATM mutations  
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Alzheimer Disease 1.inheritance 2.genes   1.AD 2.APP (amyloid beta A4); PSEN1 (presenilin-1); PSEN2 (presenilin-2); APOE e4 allele (susceptibility locus)  
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Prion-Associated Dementia 1.genetics/inheritance 2.Spongiform encephalopathies diseases (3)   1.PRNP mutations (AD) or infectious 2.Creuzfeld-Jacob disease Gerstamann-Straussler-Scheinker disease Fatal familial insomnia  
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Cerebrovascular Disorders 1.AD form 2.AR form 3.features   1.CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and leukoencephalopathy (NOTCH3 gene) 2.CARASIL (HTRA1 gene) 3.small artery occlusions leading to ischemic episodes and strokes  
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Hereditary Spastic Paraplegia 1.clinical 2.genetics   1.progressive weakness and spasticity in lower extremities (bladder disturbance, LE sensory changes, seizures, dementia, movement disorder) 2.can be AD, AR, and X-linked most common AD due to mutation in Spastin gene  
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Anterior Horn Cell 1.clinical 2.genetics   1.weakness, absent reflexes, fasciculations; neuropathic EMG and muscle biopsy; normal level of alertness 2.can be AD or AR (SOD gene AD; Alsin, Spartin, optineurin are AR)  
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Spinal Muscular Atrophy (SMA)genetics 1.locus 2.gene/protein 3.protein function 4.mutation spectrum   1.5q11.2-q13.3 (inverted, duplicated segment) 2.SMN/survival motor neuron SMN1&SMN2 differ in exon7&8 bases 3.protein interacts with RNA-binding protien 4.95-98% hom SMN1 del/trunc; 2-5% cmpd het w/SNV *increased dosage of SMN2=milder  
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Peripheral Neuropathy 1.clinical 2.hereditary conditions   1.absent deep tendon reflexes, weakness, muscle atrophy; inflammatory demyelinating 2.Charcot-Marie-Tooth (motor and sensory) Familial dysautonomia (sensory) Friedreich ataxia  
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Familial Dysautonomia 1.Clinical 2genetics   1.feeding difficulty; episodic vomiting; autonomic neuropathy; insensitivity to pain; absent tearing; absent fungiform papillae; increased sweating 2.IKBKAP (splicing mut in AJs)  
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Metabolic Neuropathy Examples   Diabetes Uremia Porphyria Pernicious anemia Abetalipoproteinemia Refsum disease Tangier disease (alpha lipoprotein)  
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Hereditary Sensory and Motor Neuropathy 1.clinical 2.genetics   1.distal weakness, pes cavus, absent DTRs 2.AD,XLR,AR CMT1: PMP2 dup and SNVs (flanked by 24 kb repeat w/ unequal X-over) HNPP: PMP22 del/trun Other: PO EGR2, cxn 32 (XL)  
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Myotonic Dystrophy 1.clinical 2.genetics   1.myotonia, weakness, hairloss, DM, cataract, ECG changes 2.DMPK gene CTG repeat expansion (5-35 nl; 35-50 premut; >50 mut; >2,000 severe neonatal) DM2: CCTG expansion in ZNF9  
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Muscular Dystrophy 1.general features 2.conditions   1.progressive; high muscle enzymes; loss of muscle cells by biopsy 2.DMD/BMD; Facio-scapulo-humeral dystrophy; congenital muscular dystrophy  
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Duchenne/Becker dystrophy 1.clinical 2.genetics   1.High CPK, prominent calves, (treatment: steriods) 2.XR, dystrophin mutations (DMD gene) DMD=loss of protein BMD=abnormal protein  
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Facioscapulohumeral Dystrophy 1.clinical 2.genetics   1.weakness of facial and upper shoulder girdle muscles; retinal vasculopathy 40-60%, SNHL 60% 2.DUX4 gene (abnormal expression) deletion in D4Z4 3.3 kb repeat (11-100 nl; 1-10 abnormal)  
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Metabolic Myopathy conditions   1.periodic paralysis (SCN4A):hypokalemic or hyperkalemic 2.Thyroid disorders 3.Steroid pathway 4.Glycogen storage disorders 5.Mitochondrial  
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