
paantothenett kinace-anubandha neuro degeneration

parkinsonism, distoniya, demensia, aathyanthikamayi maranam ennivayilekku nayikkunna thalachorile oru janithaka degenerative rogamaanu munbu hallerworden-spaatts syndrome ennu vilikkappettirunna paantothenett kinez-anubandha neuro degeneration (pii. keey. enn). pkaanile neuro degenerationodoppam thalachoril kramena roopappedunna irumbinte adhikavum undu.
bye-allelic janithaka vyathiyanangal kaaranam pank 2 enna ensaiminte pravartthanam nashtappedunnathaanu pacanc kaaranam. ithu autosomal resussive anantharaavakaashathe pinthudarunnu. vitaamin bii5 coensime eiii aakki mattunnathinulla aadyapadiyaanu eee ensime. rogalakshanangal mechappeduthaan sahayikkunna niravadhi marunnukalum chikilsakalum undengilum rogathinte purogathi parishkkarikkunna chikilsakalonnum nilavil illa, chikilsakalekkurichu sajeevamaaya gaveshanangalundu.
adayaalangalum lakshanangalum.
rogalakshanangal saadhaaranayaayi kuttikkaalathu aarambikkukayum purogamanaparamavukayum cheiyunnu, ithu palappozhum praayapoorthiyaakumbozhekkumbo maranathinu kaaranamaakunnu. paakkinte lakshanagal madhyakala kuttikkaalathinu munbu aarambikkunnu, mikkappozhum patthu vayassinu munbaanu avaa shradhikkappedunnathu. rogalakshanangalil iva ulppedunnu
25 sathamaanam vyakthikalum 10 vayassinu sesham vikasikkukayum 10 vayassinu munbullavarekkaal mandagathiyilullathum kramena vashalakunnathumaaya paan enna savisheshathayillaatha roopam anubavikkunnu. eee vyakthikalkk kaaryamaaya samsaarakkuravum maanasikavum perumattaparavumaaya aswasthathakalum neridendivarunnu.
purogamanaparavum degenerative naadi rogavumayathinaal, pacan neratheyulla chalanasheshiyilekkum palappozhum praayapoorthiyaakumbozhekkumbo maranathilekkum nayikkunnu. pneumonia polulla anubadhakal moolamaanu akaala maranam sambhavikkunnath, saankethikamaayi eee rogam jeevithathe parimithappeduthunnilla.
janithakashasthram.
oru autosomal resussive disorderaanu pacan. rogabadhithanaaya oru kuttiyude maathaapithaakkal iruvarum rogathinte heterosaigas vaahakarayirikkanam, athinaal oru mutent aaleel vahikkanam. ithu oru autosomal desorder aayathinal, eee disorderinu kaaranamakunna heterosaigas rogathe soochippikkunna asaadhaaranamaaya swabhaavasavisheshathakalonnum pradarshippikkilla, ennirunnaalum heterosaigas vyakthikal rogathinte classic roopam vikasippikkunna samyuktha heterocygosityude kesukal report cheyyappettittund.
chromosomal locusil sthithicheyyunna oru mutent pank 2 jeane moolamaanu eee takaraar undaakunnatha 20p13-p12.3. protein paantothenett kinace 2 coode cheiyunnathinu pank 2 utharavaadiyaanu. pank 2 ensaimaaya paantothenett kainesine encode cheiyunnu, jeenil mutationukal vitaamin bii 5 (paantothenett) mettabolisatthinte janmana ulla pizhavilekku nayikkunnu. koshangalil coensime eiii uthppaadippikkunnathin vitaamin bii5 aavasyamaanu. eee ensaiminte thadassappedutthal oorjjatheyum lipid mettabolisatheyum baadikkukayum irumbu ulppedeyulla doshakaramaaya samyukthangal thalachoril adinjukoodunnathilekku nayikkukayum cheyyum.
ekadesham 3.5mb genomic dnaude motham dooram ulkkollunna ezhu exonukalil ninnu uruthirinja oru 1.85kb traanskript pank 2 encode cheiyunnu. pank 2 jeane oru 50.5-kdaprotein enna functional paantothenett kainesine encode cheiyunnu, ithu coensime eiii (qoo) biosynthesisile oru avashya regulatory ensaimaanu, koodaathe paantothenett (vitaamin bii 5), enn-pantothenoyil-sisteen, pantithine (omim) ennivayude phosphorylation uthejippikkunnu.
mutent pank 2 jeane coded proteinukal palappozhum nall allengil missense mutationukal moolamaanu undaakunnath, prathyekichu pank 2 jeane coding shreniyile 7 bipi illaathaakkal.
kuttiyude maathaapithaakkal randuperum ore parivartthanam vahikkunna intra-community vivaahangale adisthaanamaakki prathyeka kammyoonittikalil eee takaraar report cheyyappettittund. report cheyyappetta samudaayangalilonnu pradhaanamaayum indiayude vadakkan bhagam aasthaanamaayulla agrawal (agarwal) samudaayamaanu. agrawal samoohathil ariyappedunna mutation pank 2 jeenile rogakariyaaya mutation 1c.215_216insa aanu. chila laabukal ithu chr 20:3870292-3870293 insa ennum coode cheythittundu. ithu 47 amino aasidukalude protein frame shifttum akaala vettimattavum kodoon 183 lake thaazhekku nayikkunnu (pii.aarji183glufstar 47; enstaart 300000316562).
roganirnayam.
oru neurological parisodhana peshikalude kaadinyam; balaheenata; asaadhaaranamaaya bhaavangal, chalanagal, virayal ennivayude thelivukal kanikkum. mattu kudumbamgangaleyum baadhichittundenkil, roganirnayam nirnnayikkaan ithu sahaayichekkam. janithaka parishodhanakalkk rogathinu kaaranamakunna asaadhaaranamaaya oru jeane sthireekarikkaan kazhiyum. ennirunnaalum, eee parisodhana ithuvare vyaapakamaayi labhyamayittilla. mattu chalana vaikalyangalum rogangalum ozhivaakkanam. mukalil listtucheytha eathenkilum lakshanagal prakadippikkunna vyakthikale palappozhum neuroyumaayi bandhapetta niravadhi vaikalyangalkkayi emm. aarr. aii (magnetic resonance imaging) upayogichu parishodhikkunnu. oru emm. aarr. aii saadhaaranayaayi basel gangliyayil irumbinte nikshepam kaanikkunnu. enbia ulkkollunna mattu tharatthilulla neuro degenerative rogangalil ninnu pkaane kooduthal verthirikkaamenna pratheekshayil diagnostic maanadandangalude vikasanam thudarunnu.
neuro pathology.
globus palidasil uyarnna alavil irumbum substaantiya nigrayude paars rettikulattayum ulppedunnu, ithu aii-oof-dhii-tiger saine ennu vilikkunna oru paattenil thurumbu-thavitt niramulla oru swabhaavamaayi vyakthamaan; irumbu shekharikkunna pradeshangalil kendreekarichirikkunna lipophasinum neuromelan; veertha aaksonukale prathinidheekarikkunna oval, nonnucleated gadanakal, cytoplasm vaakvolukalaal veerkkunnu, avaye "spheroidukal", "aaksan scholan" allengil "neuroaxonal dystrophy"; levi bodikal ennu vilikkunnu.
chikitsa.
phosphopandothenate oru manushyanil pacane chikilsikkunnuvennum rogathinte elikalude maathrkayilum kaanichittundu. paanthetthin (paanthetthininte oru mungamiyaaya) padikkukayum elikalilum rogathinte oru fruit fly modalilum phalapradamaanennu kaanikkukayum cheythittundu.
pravachanam.
saadhaarana pkaan roganirnayam nadathukayum chikilsikkaathe avasheshikkukayum cheiyunnavarude athijeevana nirakk 7.8 varshathe staanderd vyathiyaanathode 11.18 varshamaan. vaikiyaan pkaan aarambikkunna orotta rogiyil nalla phalangal report cheiyunna oru patanam nadathiyittundu.
epidemiology.
eee rogathekkurichulla vyaapana daatta apoornnamaayi thudarunnu, ennirunnaalum 1,000,000 ll 1 muthal 1,000,000 ll 3 vare vyakthikale eee rogaavastha baadhikkumenn kanakkaakkappedunnu (janasamkhyayil nireekshicha kesukalude adisthaanathil), ennaal orikkal koodi ithu oru kanakk maathramaan, kaaranam rogam valare apoorvamaanu, sthithivivarakkanakkilum krithyamaayum nirnnayikkaan prayaasamaan.
charithram.
hallerworden spaatsum (1922) aanu pacane aadyamaayi vivarichathu. 12 peradangunna oru kudumbatthil anchu sahodarimaar kramena vardhichuvarunna demensia disarthry prakadippicha roganirnayathiloodeyaanu avarude kandethal. thalachorinte vividha bhaagangalil thavitt niratthilulla niravyathyaasangal postmortem nadathiyappol kandethi (prathyekichu globus palidus, substaanshya nigra mekhalakal). 30 vyathyastha pacan kesukal kandethiya mayer (1958) kooduthal anweshanavum vivaranavum konduvannu. meyarine (1958) thudarnnu elijalde thudangiyavar vannu. (1978) rogabadhitharaaya 5 kudumbamgangale vivarikkukayum eee takaraar madhya europil ninnaan uthbhavichathenn anumaanikkukayum, klinikkal, janithaka vishakalanathiloode thante sidhaanthathe pinthunaykkukayum cheythu. malmstrom-groth aandu kristtansan (1982), jangovic thudangiyavar kooduthal anweshanavum ulkkaazhchakalum nalki. (1985).
missis labhyatha, athupole litrup aandu gebarsky (1985), tanfani thudangiyavar nalkia aaa mississinte aazhathilulla vivaranagal ennivayil pkaan roganirnayam oru naazhikakkalliletthi. (1987), sethi thudangiyavar. (1988), aanjalini thudangiyavar. (1992), castles thudangiyavar. (1994), malandrini mattullavarum. (1995). taylor mattullavarum chernnu jeenine 20pii chromosomilake praadeshikavalkkarichu. (1996) hallerworden-spaatts enna aakshepakaramaaya peru ozhivakkaan eee thakaraarine braine ayann shekharanathodukoodiya neuro degeneration (enn. bii. aii. eiii 1) ennu vilikkanamennu addeham nirddeshichu. eee rogathe 'paantothenett kinace-anubandha neuro degeneration' allengil pacan ennu souy mattullavarum punarnaamakaranam cheythu. (2001) thettaaya vyaakhyaanam ozhivaakkaanum thakaraarinte yadhaartha swabhaavam nannayi prathifalippikkaanum peru nirddeshichu. ettavum aduthakaalathu pelechiya thudangiyavar. (2005) pkaan baadhicha 16 rogikalude oru report prasidheekarichu, ithu janithaka vishakalanam sthireekarichu.