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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
3 types of Neurofibromatoses 1.NF1 2.NF2 3.Schwannomatosis
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)
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
Schwannomatosis inheritance frequency features gene/protein function AD (incomplete) unknown schwannomas INI1/SMARCB1/ chromatin remodelling protein
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
Legius syndrome: clinical manifestation gene multiple cafe-au-lait SPRED1 gene
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
NF2 treatment surgery clinical trials with bevacizumab
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
Tuberous sclerosis complex inheritance frequency genes/protein function AD (complete) 1/6,000 TSC1 (chr 9q34)/hamartin; TSC2 (chr16p13)/tuberin: tumor suppressor-mTOR inhibition
Tuberous sclerosis surveillance treatment surveillance: development, seizures, SEGA, renal, pulmonary, eye treatment: everolimus for progressive SEGA or AML
Von Hippel Lindau clinical features 1.Hemangioblastoma (cerebellum, retinal, spinal cord) 2.Pheochromocytoma 3.Renal cell carcinoma 4.Endolymphatic sac tumor
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
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
Channelopathies: channel types 1.Nicotinic AchR 2.K channel 3.Na channel 4.GABA(A) receptor 5.Cl channel
Bradykinesia slow movements
Dystonia sustained muscle contraction resulting in abnormal posture
Chorea sudden involuntary movement
Myoclonus muscle jerking
Tremor rhythmic oscillatory movement
Tic sudden stereotyped motor movement or vocalization
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
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
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
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)
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)
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)
Hereditary Ataxias (Name 3) 1.Spinocerebellar ataxias 2.Friedreich ataxia 3.Ataxia telangiectasia
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
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
Alzheimer Disease 1.inheritance 2.genes 1.AD 2.APP (amyloid beta A4); PSEN1 (presenilin-1); PSEN2 (presenilin-2); APOE e4 allele (susceptibility locus)
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
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
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
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)
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
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
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)
Metabolic Neuropathy Examples Diabetes Uremia Porphyria Pernicious anemia Abetalipoproteinemia Refsum disease Tangier disease (alpha lipoprotein)
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)
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
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
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
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)
Metabolic Myopathy conditions 1.periodic paralysis (SCN4A):hypokalemic or hyperkalemic 2.Thyroid disorders 3.Steroid pathway 4.Glycogen storage disorders 5.Mitochondrial
Created by: amrs