Ataxia, and Leukoencephalopathy

Diseases related with Ataxia and Leukoencephalopathy

In the following list you will find some of the most common rare diseases related to Ataxia and Leukoencephalopathy that can help you solving undiagnosed cases.


Top matches:

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B


Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A


Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS


Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

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Other less relevant matches:

Low match LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA


Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA

Low match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Low match RIBOSE-5-P ISOMERASE DEFICIENCY


Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RIBOSE-5-P ISOMERASE DEFICIENCY

Low match ALZHEIMER DISEASE 3; AD


ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Low match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Low match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Top 5 symptoms//phenotypes associated to Ataxia and Leukoencephalopathy

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Leukoencephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Cerebral atrophy Global developmental delay Cognitive impairment Dysphagia Delayed speech and language development Progressive neurologic deterioration Nystagmus Mental deterioration Apraxia Dysarthria Diffuse swelling of cerebral white matter Megalencephaly Macrocephaly Ventriculomegaly

Rare Symptoms - Less than 30% cases


Mutism Cerebral cortical atrophy Shuffling gait Abnormality of the periventricular white matter Neurofibrillary tangles Gait disturbance Dementia Hypoplasia of the corpus callosum Rigidity Generalized hypotonia Brain atrophy Memory impairment Neuronal loss in central nervous system Alzheimer disease Personality changes Abnormality of extrapyramidal motor function Microcephaly Frontotemporal dementia Leukodystrophy Motor deterioration Peripheral neuropathy Progressive cerebellar ataxia Headache Diffuse white matter abnormalities Cerebellar atrophy Cerebral calcification Irritability Diffuse leukoencephalopathy Dyskinesia Athetosis Sleep disturbance Severe global developmental delay Encephalopathy Chorea Delayed myelination Poor speech Abnormal CNS myelination Abnormal myelination Intellectual disability, profound Flexion contracture Optic ataxia Limb apraxia Agnosia Dyscalculia Focal white matter lesions Anarthria Dysgraphia Doll-like facies Primitive reflex Spastic tetraplegia Postnatal microcephaly Inappropriate behavior Gliosis Restless legs Vegetative state CNS demyelination Astrocytosis Senile plaques Frontal lobe dementia Insomnia Atrophy/Degeneration affecting the brainstem Decreased number of peripheral myelinated nerve fibers Muscle stiffness Frontal release signs Hearing impairment Peripheral demyelination Parkinsonism Progressive microcephaly Postural instability Neurodegeneration Confusion Sensorineural hearing impairment Abnormal pyramidal sign Difficulty walking Depressivity Behavioral abnormality Tremor Hyperreflexia Limb joint contracture Cerebellar vermis atrophy Progressive spasticity Clonus Bradykinesia Spastic paraplegia Lewy bodies Muscle weakness Abnormally large globe Retinal atrophy Oculomotor apraxia Amblyopia Heterotopia Cerebellar vermis hypoplasia High myopia Retinal dystrophy Abnormality of eye movement Elevated serum creatine phosphokinase Myopia Muscular hypotonia Strabismus Cerebellar dysplasia Abnormal chorioretinal morphology Optic neuropathy Abnormal retinal morphology Visual field defect CNS hypomyelination Schizophrenia Limb ataxia Gait ataxia Diffuse spongiform leukoencephalopathy Abnormal muscle tone Intellectual disability, mild Clumsiness Autism Dilated fourth ventricle Cerebellar cyst Delusions Decreased level of erythritol in CSF Lower limb hyperreflexia Dysphasia Spastic tetraparesis Spastic paraparesis Paraparesis Spastic gait Tetraparesis Psychosis Paraplegia Ophthalmoplegia Myoclonus Babinski sign Decreased level of erythritol in urine Increased level of xylitol in CSF Retinal thinning Increased level of D-threitol in plasma Increased level of ribitol in CSF Increased level of D-threitol in urine Increased level of D-threitol in CSF Increased level of ribose in urine Increased level of ribitol in urine Increased level of xylitol in urine Elevated circulating ribitol concentration Increased level of ribose in CSF Sensorimotor neuropathy Polyneuropathy Cirrhosis Optic atrophy Nonprogressive encephalopathy



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