Disease #04225 (neurodegeneration)

Official abbreviation -
Name neurodegeneration
OMIM ID -
Inheritance -
Individuals reported having this disease 42
Phenotype entries for this disease 39
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-03-13 20:14:29 +01:00 (CET)
Date last edited N/A


Individuals

42 entries on 1 page. Showing entries 1 - 42.
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00034216 family PubMed: Kumar 2015, PubMed: Kumar 2015, PubMed: Kumar 2022 3-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents/sibs F;M yes - Middle East - - - - neurodegeneration see paper; infantile-onset neurodegenerative disorder, predominant sensorimotor axonal neuropathy, optic atrophy, cognitive deficit FMNL3, STXBP5L, TIMMDC1 FMNL3, STXBP5L, TIMMDC1 4 2 Johan den Dunnen
00163815 - - - M yes Afghanistan - - - - - neurodegeneration - - LONP1 1 1 Grace Yoon
00213141 Pat1 PubMed: Coci 2019, Journal: Coci 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - neurodegeneration see paper; ... PC PC 1 1 Emanuele Coci
00225464 Fam1PatV1 PubMed: Ghosh 2018, Journal: Ghosh 2018 4-generation family, 9 affected (4F, 5M), unaffected heterozygous carrier parents M yes United Arab Emirates - 04y - - - neurodegeneration 4y-died in sleep; birth normal; early development normal; spoke in sentences but then deteriorated; normal motor development but then deteriorated; 18m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; phenotype exacerbated by illness and/or stress ADPRHL2 ADPRHL2 1 9 Johan den Dunnen
00225465 Fam2PatII2 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - neurodegeneration birth normal; early development normal; slow speech; normal motor development, 2y-deteriorated; normal but then started deteriorating at age 11 yeras; 11y-MRI cerebellar vermis atrophy; 11y-unsteady gait; phenotype exacerbated by illness and/or stress; 11y-myopathic changes on muscle biopsy ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225466 Fam3PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - neurodegeneration birth normal; early development normal; normal speech; normal motor development; no intellectual disabilityy, then delaye; 12y-MRI mild cerebellar atrophy, spinal cord atrophy; 4y-axonal polyneuropathy; 4y-unsteady gait ; phenotype exacerbated by illness and/or stress; claw hand and pes cavus deformities, scoliosis, 10y-sensorineural hearing loss, tracheotomy, ventilation ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225467 Fam4PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - neurodegeneration birth normal; early development normal; normal speech; normal motor development, 2y-deteriorated; generalized tonic-clonic seizure with illness; mild intellectual disability (IQ 60); 3y-EEG mild slowing background activity; 4y-MRI mild cerebellar atrophy; 4y-normal muscle biopsy; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; asthma ADPRHL2 ADPRHL2 1 2 Johan den Dunnen
00225468 Fam5PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - 06y - - - neurodegeneration 6y-died in sleep; birth normal; early development normal; normal until 1.5y but then deteriorated with difficulty speaking; normal motor development, 1y-deteriorated; 24m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG generalized epileptiform activity, slow background; 4y-EMG normal; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, tremors, frequent falling ADPRHL2 ADPRHL2 1 2 Johan den Dunnen
00225469 Fam6PatII3 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - neurodegeneration birth normal; early development normal; speech delayed; normal; mild intellectual disability; EEG normal; 15y-MRI mild cerebellar vermis atrophy, spinal cord atrophy; axonal polyneuropathy; 10y-unsteady gait; phenotype exacerbated by illness and/or stress; distal muscle atrophy, pes cavus deformity, toe abnormality, scoliosis, brisk deep-tendon reflexs, positive Babinski reflex, intentional tremor, ataxia ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225470 30401461-Fam1 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Germany - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 2 Johan den Dunnen
00225471 30401461-Fam2 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225472 30401461-Fam3 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225473 30401461-Fam4 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - - - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 2 Johan den Dunnen
00225474 30401461-Fam5 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Yugoslavia Kosovo - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225475 30401461-Fam6 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00225476 30401461-Fam7 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes China - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 2 Johan den Dunnen
00225477 30401461-Fam8 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - - - - neurodegeneration see paper; …, neurodegeneration, developmental delay, ataxia, axonal neuropathy ADPRHL2 ADPRHL2 1 2 Johan den Dunnen
00226110 patient PubMed: Ginevrino 2020 2-generation family, 1 affected, unaffected non-carrier parents F no Italy - - - - - neurodegeneration neuronal ceroid lipofuscinosis, progressive tetraparesis, cognitive and motor decline; until 2.5y normal developmental milestones; 2.5y-language; 3.5y-motor regression, frequent falls, loss of manual skills and language abilities;10y-moderate intellectual disability, severe hypopostural spastic-dystonic tetraparesis associated with ballistic-choreic movements, severe dysarthria, drooling, reduced visual acuity both eyes, optic disks normal, electroretinogram normal; no epileptic seizures, awake EEG examination normal background activity with multifocal spike-and-wave complexes on posterior regions bilaterally and marked photoparoxysmal response, during sleep irregular pseudoperiodic polyspike-and-wave complexes; occasional myoclonic jerks limbs; MRI brain 8y/10-unremarkable; electron microscopy skin biopsy enlarged lysosomes containing storage material, including curved tubular aggregates - IRF2BPL 1 1 Enza Maria Valente
00239184 Fukada2019 patient PubMed: Fukada 2019 2 carriers, 1 affected F no Japan japanese 05y - - - neurodegeneration Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639) ACO2 ACO2 2 1 Thomas Foulonneau
00326505 PLAA-male - - M yes Iran Persian - - no none neurodegeneration HP:0002500 HP:0000486 HP:0002307 HP:0001339 HP:0000316 PLAA PLAA 1 1 Ehsan Razmara
00380216 Pat2 PubMed: Coci 2019, Journal: Coci 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Canada Canada-Aboriginal - - - - neurodegeneration see paper; ..., lactic acidosis, generalized hypotonia PC PC 1 1 Johan den Dunnen
00380217 Pat3 PubMed: Coci 2019, Journal: Coci 2019 2-generation family, 1 affected, unaffected parents M - - - - - - - neurodegeneration see paper; ... PC PC 1 1 Johan den Dunnen
00380218 Pat4 PubMed: Coci 2019, Journal: Coci 2019 2-generation family, 1 affected, unaffected parents M no - - - - - - neurodegeneration see paper; ... PC PC 1 1 Johan den Dunnen
00395653 Fam1PatI-IV2 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - neurodegeneration 2y-died in sleep; birth normal; early development normal; 2y-speech few words; normal motor development until death; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395654 Fam1PatI-IV3 PubMed: Ghosh 2018 - M yes United Arab Emirates - 7y - - - neurodegeneration 7y-died from seisure; birth normal; early development normal; speech normal until 2.5y but then no further development; normal motor development but then deteriorated; 19m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395655 Fam1PatI-IV5 PubMed: Ghosh 2018 - M yes United Arab Emirates - 15y - - - neurodegeneration 15y-died respiratory failure; birth normal; early development normal; speech normal until 3.5y but then deteriorated; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability, then delayed; 5y-MRI normal; 3y-unsteady gait; phenotype exacerbated by illness and/or stress; hypotonia with repeated pneumonia, ventilator dependent at time of death ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395656 Fam1PatI-IV11 PubMed: Ghosh 2018 - M yes United Arab Emirates - - - - - neurodegeneration birth normal; early development normal; speaks only a few words; normal motor development but then deteriorated; 15m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; can walk but is very unsteady ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395657 Fam1PatII-IV2 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - neurodegeneration 2y-died in sleep 1 week after flu-like illness; birth normal; early development normal; normal speech until death; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395658 Fam1PatII-IV5 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - neurodegeneration 2y-died fron seizure after playing; birth normal; early development normal; normal speech until death; normal motor development until death; 15m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395659 Fam1PatII-IV6(A1) PubMed: Ghosh 2018 - M yes United Arab Emirates - 9y - - - neurodegeneration 9y-died from respiratory failure after long airplane trip; birth normal; early development normal; speech normal until 25y but then deteriorated; normal motor development, 2y-deteriorated; 18m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; nerve biopsy with severe axonal loss; 2y6m-unsteady gait; phenotype exacerbated by illness and/or stress; repeated pneumonia, repeated cardiac arrest, profound type II muscle fiber atrophy ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395660 Fam1PatII-IV7(A2) PubMed: Ghosh 2018 - F yes United Arab Emirates - - - - - neurodegeneration birth normal; early development normal; normal speech but then deteriorated; 14m-walk, 19m-ataxia, poor balance; 16m-onset seizures; absence seizure, generalized tonic-clonic seizure; no intellectual disability, then delayed; EEG generalized epileptiform activity, slow background; 7y-MRI mild cerebellar atrophy; 20m-unsteady gait; phenotype exacerbated by illness and/or stress; normal hearing but then developed severe SNHL, severe kyphoscoliosis, one episode of cardiac arrest ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395661 Fam4PatII3 PubMed: Ghosh 2018 - F yes Pakistan - - - - - neurodegeneration birth normal; mild developmental delay; speech delayed; motor development mildly delayed; 9m-onset seizures; generalized tonic-clonic seizure with illness; mild global developmental delay; EEG normal; 11m-MRI normal; phenotype exacerbated by illness and/or stress; ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00395662 Fam5PatII2 PubMed: Ghosh 2018 - F yes Iran - - - - - neurodegeneration birth normal; early development normal; speaks only a few words; normal motor development, 1.5y-deteriorated; 36m-onset seizures; multifocal seizure, generalized tonic-clonic seizure; no intellectual disability, then stagnated; EEG normal; 3y-MRI normal; 4y-axonal polyneuropathy; 1y6m-unsteady gait; phenotype exacerbated by illness and/or stress; progressive weakness, progressive external ophthalmoplegia ADPRHL2 ADPRHL2 1 1 Johan den Dunnen
00402890 Fam3PatII1 PubMed: Lin 2023, Journal: Lin 2023 2-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Sudan - - - - - MPS, neurodegeneration - - GALNS, OGDHL 2 1 Barbara Vona
00402893 Fam6PatIV1 PubMed: Lin 2023, Journal: Lin 2023 3-generation family, 1 affected, unaffected heterozygous parents M yes Iran - - - - - neurodegeneration - - EIF2B3, NDUFS1, OGDHL 3 1 Barbara Vona
00452748 - - - F - - (not applicable) white - - - - neurodegeneration HP:0007325, HP:0001257, HP:0033044, HP:0025406, HP:0004322, HP:0011098, HP:0000252 - KLC1 1 1 Marketa Wayhelova
00453466 - - - F - - (not applicable) - - - - - neurodegeneration HP:0000545, HP:0000483, HP:0002650, HP:0003698, HP:0001263, HP:0001260, HP:0001251, HP:0001337, HP:0001272, HP:0100585 - HEXB 2 1 Marketa Wayhelova
00453475 OGM_P40 PubMed: Xiao 2024 - M no China Chinese - - - - neurodegeneration The patient is a developmentally delayed male aged 6 years and 4 months. He is the second child born at full term with a birth weight of 3.2 kg (50th percentile). There is no history of birth asphyxia. While gross motor development appears normal, his speech remains delayed - he was able to say "dad" and "mom" at the age of two, and he still spoke mostly simple words and showed limited understanding of instructions at 6 years old. Physical examination revealed a height of 115 cm (15th-50th percentile), a weight of 21 kg (50th percentile), and a head circumference of 51.8 cm (50th percentile). Magnetic resonance imaging (MRI) of the brain showed no apparent abnormalities. Intelligence testing using the WISC-R indicated a language score of 56, an operational score of 55, and a total IQ of 48. MBD5 MBD5 1 3 Xiaomei Luo
00453477 OGM_P2 PubMed: Xiao 2024 - M no China Chinese - - - - neurodegeneration He presents with global developmental delay and regression. His birth history was not remarkable. Motor regression occurred at 7-8 months, and he exhibits no speech, hypotonia, and self-injurious behavior. Additionally, he shows reduced pain sensation and an inability to comprehend language. Brain MRI revealed cerebellar atrophy, similar to his older sister. Progressive regression occurred after 1 year, with developmental delay, inability to sit, roll over, or move limbs freely, and hypotonia. He has poor chewing ability, limited speech expression, and a poor response to rehabilitation. Unfortunately, he deceased at 5 years and 6 months. Brain MRI showed cerebellar atrophy and abnormal signals in the bilateral dentate and globus pallidus. PLA2G6 PLA2G6 2 3 Xiaomei Luo
00453478 OGM_P4 PubMed: Xiao 2024 - M no China Chinese - - - - neurodegeneration The patient is a 6 years and 8 months old boy with global developmental delay and generalized hypotonia. Seizures started at two months of age. Currently, at 7 years of age, he has significant motor limitations, unable to lift his head, sit independently, walk, or speak. Neurological examination shows poor visual tracking and response to sound. Brain MRI shows abnormally wide cerebral gyri with thickening of the cerebral cortex. PAFAH1B1 PAFAH1B1 1 3 Xiaomei Luo
00453480 OGM_P30 PubMed: Xiao 2024 - M no China Chinese - - - - neurodegeneration The patient presents with developmental delay and seizures. Brain MRI shows dysgenesis of the corpus callosum with absent vermis, and an abnormal EEG indicates epileptic discharges. Karyotyping revealed a de novo reciprocal translocation between chromosome 2p and 6q. SYNCRIP - 4 3 Xiaomei Luo
00466424 - - - M no Japan Japanese >07y - - - neurodegeneration - WDR83 WDR83 1 1 Tadashi Kaname
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