C0027877_JABL

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?:definition	A group of inherited progressive neurometabolic diseases, previously considered as several separate syndromic entities, with considerable variability in clinical, pathological manifestations, and genetic findings. All diseases in this groups are characterized by abnormal storage of the autofluorescent proteolipopigments in neuronal and other structures with an average incidence estimated at 1:5/100,000. Six principal types are classified on the basis of age of onset, clinical manifestations, pathological changes, and genetic features. There appears to be a lack of uniformity in classification of CLN-5 and CLN-6. CLN-5 Boehme disease) is listed in OMIM in the Autosomal Dominant Catalog (OMIM: 162350) without a CLN number, and the late infantile variant as CLN- 5 (OMIM: 256731). CLN-7 has been added to include atypical forms of neuronal ceroid-lipofuscinosis that have not been included in previous classifications. Neuronal ceroid-lipofuscinosis type 1 (CLN-1) Synonyms: Hagberg-Santavuori disease Haltia-Santavuori disease Santavuori disease Santavuori-Haltia disease acute infantile neuronal ceroid-lipofuscinosis infantile Finnish type of neuronal ceroid-lipofuscinosis infantile neuronal ceroid-lipofuscinosis (INCL) polyunsaturated fatty acid lipidosis A variant encountered most frequently in Finland, hence the synonym infantile Finnish type of neuronal ceroid-lipofuscinosis, with onset at age 6 to 18 months and a subacute course. It is characterized by rapid deterioration with psychomotor retardation, loss of speech, seizures, ataxia, blindness, hypotonia, microcephaly, and occasional convulsions. Mapped to chromosome 1p32. The gene is known to be the palmityl-protein trioesterase. Transmitted as an autosomal recessive trait. (OMIM 256730) Neuronal ceroid-lipofuscinosis type 2 (CLN-2) Synonyms: Bernheimer-Seitelberger syndrome Bielschowsky amaurotic idiocy Bielschowsky disease Jansky-Bielschowsky disease Seitelberger disease late infantile amaurotic idiocy late infantile Batten disease late infantile neuronal lipofuscinosis (LINCL) subacute late infantile neuronal ceroid- lipofuscinosis The second most common variant with a subacute course after onset in infancy or early childhood characterized by refractive epilepsy, mental regression, ataxia, visual loss, and progressive deterioration. Mapped to chromosome 11p15. Pepstatin insensitive carboxypeptidase, 46dKa protein, Cys365->Tyr, Arg 208>umber stop codon, AG or intronic 3\'spine junction to AC are the genetic features. Transmitted as an autosomal recessive trait. (OMIM 294500) neuronal ceroid-lipofuscinosis type 3 (CLN-3) Synonyms: Batten syndrome (BTS) Batten-Mayou syndrome Batten-Spielmeyer-Vogt disease Spielmeyer-Sjogren syndrome Spielmeyer-Vogt-Batten disease Spielmeyer-Vogt-Sjogren disease Stock-Spielmeyer-Vogt syndrome Vogt-Spielmeyer disease chronic juvenile neuronal ceroid-lipofuscinosis (JNCL) juvenile amaurotic family idiocy juvenile amaurotic idiocy juvenile Batten disease juvenile cerebrorenal degeneration juvenile neuronal lipofuscinosis (JNCL) juvenile onset neuronal ceroid-lipofuscinosis pigmentary retinal neuronal heredodegeneration The most commonly occurring variant with a chronic course after juvenile onset with an estimated incidence of 1:25,000. The first symptom is usually visual failure which takes place between the ages of 4 and 15 years. The early symptoms are followed by epilepsy and progressive physical and mental deterioration. Batten disease gene maps to chromosome 16p12.1. 56 chromosome haplotype defined by alleles at the D16S299 is shared by 73% of Batten disease chromosomes. Exon amplification of a cosmid containing D16S298 has yielded a candidate gene that is disrupted by kb genomic deletion in patients with 56 chromosomes. The disease gene encodes a 436 amino acid protein of unknown function. Transmitted as an autosomal recessive trait. (OMIM 294200) neuronal ceroid-lipofuscinosis type 4 (CLN-4) Synonyms: Kufs disease Kufs-Mayer disease adult amaurotic idiocy adult ceroid lipofuscinosis adult ganglioside lipidosis adult neuronal ceroid-lipofuscinosis adult recessive neuronal ceroid lipofuscinosis chronic adult-recessive neuronal ceroid-lipofuscinosis late familial amaurotic idiocy late ganglioside lipidosis A rare variant with onset of symptoms between the ages of 20 and 50 years with a chronic course and associated with cerebellar ataxia, bulbar symptoms, and extrapyramidal and pyramidal signs, but without retinal lesions and rapidly progressive dementia. Transmitted as an autosomal recessive trait but some cases are sporadic. (OMIM 204300) neuronal ceroid-lipofuscinosis type 5 (CLN-5) Synonyms: Boehme disease Parry neuronal ceroid-lipofuscinosis adult dominant neuronal ceroid-lipofuscinosis chronic adult dominant neuronal ceroid-lipofuscinosis dominant Kufs disease dominant neuronal ceroid-lipofuscinosis A cerebellar syndrome with onset early in fourth decade, characterized by epileptic fits, myoclonic epilepsy, progressive dementia, and hypertension. 11 cases were reported in four generations of a family named Parry. Transmitted as an autosomal dominant trait. (OMIM 162350) neuronal ceroid-lipofuscinosis type 6 (CLN-6) Synonyms: Zeman-Dyken-Lake-Santavuori-Savukoski disease subacute transitional early juvenile neuronal ceroid-lipofuscinosis A subacute variant with onset in late childhood or in early period with seizures, ataxia, retinal lesions, mental failure, and gradual neurological deterioration. neuronal ceroid-lipofuscinosis type 7 (NCL-7) A group of previously unclassified atypical forms of NCL, representing about 12 to 20% of those afflicted, characterized by accumulation of ceroid-lipofuscin in the secondary lysosomes or neurons and cells of other tissues, as skin, conjunctiva, and lymphocytes.
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A group of inherited progressive neurometabolic diseases, previously considered as several separate syndromic entities, with considerable variability in clinical, pathological manifestations, and genetic findings. All diseases in this groups are characterized by abnormal storage of the autofluorescent proteolipopigments in neuronal and other structures with an average incidence estimated at 1:5/100,000. Six principal types are classified on the basis of age of onset, clinical manifestations, pathological changes, and genetic features. There appears to be a lack of uniformity in classification of CLN-5 and CLN-6. CLN-5 Boehme disease) is listed in OMIM in the Autosomal Dominant Catalog (OMIM: 162350) without a CLN number, and the late infantile variant as CLN- 5 (OMIM: 256731). CLN-7 has been added to include atypical forms of neuronal ceroid-lipofuscinosis that have not been included in previous classifications. Neuronal ceroid-lipofuscinosis type 1 (CLN-1) Synonyms: Hagberg-Santavuori disease Haltia-Santavuori disease Santavuori disease Santavuori-Haltia disease acute infantile neuronal ceroid-lipofuscinosis infantile Finnish type of neuronal ceroid-lipofuscinosis infantile neuronal ceroid-lipofuscinosis (INCL) polyunsaturated fatty acid lipidosis A variant encountered most frequently in Finland, hence the synonym infantile Finnish type of neuronal ceroid-lipofuscinosis, with onset at age 6 to 18 months and a subacute course. It is characterized by rapid deterioration with psychomotor retardation, loss of speech, seizures, ataxia, blindness, hypotonia, microcephaly, and occasional convulsions. Mapped to chromosome 1p32. The gene is known to be the palmityl-protein trioesterase. Transmitted as an autosomal recessive trait. (OMIM 256730) Neuronal ceroid-lipofuscinosis type 2 (CLN-2) Synonyms: Bernheimer-Seitelberger syndrome Bielschowsky amaurotic idiocy Bielschowsky disease Jansky-Bielschowsky disease Seitelberger disease late infantile amaurotic idiocy late infantile Batten disease late infantile neuronal lipofuscinosis (LINCL) subacute late infantile neuronal ceroid- lipofuscinosis The second most common variant with a subacute course after onset in infancy or early childhood characterized by refractive epilepsy, mental regression, ataxia, visual loss, and progressive deterioration. Mapped to chromosome 11p15. Pepstatin insensitive carboxypeptidase, 46dKa protein, Cys365->Tyr, Arg 208>umber stop codon, AG or intronic 3\'spine junction to AC are the genetic features. Transmitted as an autosomal recessive trait. (OMIM 294500) neuronal ceroid-lipofuscinosis type 3 (CLN-3) Synonyms: Batten syndrome (BTS) Batten-Mayou syndrome Batten-Spielmeyer-Vogt disease Spielmeyer-Sjogren syndrome Spielmeyer-Vogt-Batten disease Spielmeyer-Vogt-Sjogren disease Stock-Spielmeyer-Vogt syndrome Vogt-Spielmeyer disease chronic juvenile neuronal ceroid-lipofuscinosis (JNCL) juvenile amaurotic family idiocy juvenile amaurotic idiocy juvenile Batten disease juvenile cerebrorenal degeneration juvenile neuronal lipofuscinosis (JNCL) juvenile onset neuronal ceroid-lipofuscinosis pigmentary retinal neuronal heredodegeneration The most commonly occurring variant with a chronic course after juvenile onset with an estimated incidence of 1:25,000. The first symptom is usually visual failure which takes place between the ages of 4 and 15 years. The early symptoms are followed by epilepsy and progressive physical and mental deterioration. Batten disease gene maps to chromosome 16p12.1. 56 chromosome haplotype defined by alleles at the D16S299 is shared by 73% of Batten disease chromosomes. Exon amplification of a cosmid containing D16S298 has yielded a candidate gene that is disrupted by kb genomic deletion in patients with 56 chromosomes. The disease gene encodes a 436 amino acid protein of unknown function. Transmitted as an autosomal recessive trait. (OMIM 294200) neuronal ceroid-lipofuscinosis type 4 (CLN-4) Synonyms: Kufs disease Kufs-Mayer disease adult amaurotic idiocy adult ceroid lipofuscinosis adult ganglioside lipidosis adult neuronal ceroid-lipofuscinosis adult recessive neuronal ceroid lipofuscinosis chronic adult-recessive neuronal ceroid-lipofuscinosis late familial amaurotic idiocy late ganglioside lipidosis A rare variant with onset of symptoms between the ages of 20 and 50 years with a chronic course and associated with cerebellar ataxia, bulbar symptoms, and extrapyramidal and pyramidal signs, but without retinal lesions and rapidly progressive dementia. Transmitted as an autosomal recessive trait but some cases are sporadic. (OMIM 204300) neuronal ceroid-lipofuscinosis type 5 (CLN-5) Synonyms: Boehme disease Parry neuronal ceroid-lipofuscinosis adult dominant neuronal ceroid-lipofuscinosis chronic adult dominant neuronal ceroid-lipofuscinosis dominant Kufs disease dominant neuronal ceroid-lipofuscinosis A cerebellar syndrome with onset early in fourth decade, characterized by epileptic fits, myoclonic epilepsy, progressive dementia, and hypertension. 11 cases were reported in four generations of a family named Parry. Transmitted as an autosomal dominant trait. (OMIM 162350) neuronal ceroid-lipofuscinosis type 6 (CLN-6) Synonyms: Zeman-Dyken-Lake-Santavuori-Savukoski disease subacute transitional early juvenile neuronal ceroid-lipofuscinosis A subacute variant with onset in late childhood or in early period with seizures, ataxia, retinal lesions, mental failure, and gradual neurological deterioration. neuronal ceroid-lipofuscinosis type 7 (NCL-7) A group of previously unclassified atypical forms of NCL, representing about 12 to 20% of those afflicted, characterized by accumulation of ceroid-lipofuscin in the secondary lysosomes or neurons and cells of other tissues, as skin, conjunctiva, and lymphocytes.

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