Ataxia, and Neurodegeneration

Medium match KURU, SUSCEPTIBILITY TO

Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

• Ataxia
• Mental deterioration
• Abnormality of eye movement
• Unsteady gait
• Neurodegeneration

SOURCES: OMIM MENDELIAN

Medium match AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

• Dysarthria
• Tremor
• Gait disturbance
• Dysphagia
• Rigidity

SOURCES: OMIM ORPHANET MENDELIAN

Medium match SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

• Global developmental delay
• Generalized hypotonia
• Ataxia
• Nystagmus
• Spasticity

SOURCES: OMIM MENDELIAN

Medium match UNVERRICHT-LUNDBORG DISEASE

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1

• Intellectual disability
• Seizures
• Ataxia
• Cognitive impairment
• Dysarthria

SOURCES: ORPHANET OMIM MENDELIAN

Medium match SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

• Ataxia
• Dysarthria
• Gait disturbance
• Cerebral atrophy
• Depressivity

SOURCES: MESH OMIM MENDELIAN

Medium match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

• Ataxia
• Cognitive impairment
• Tremor
• Dysphagia
• Behavioral abnormality

SOURCES: ORPHANET OMIM MENDELIAN

Medium match NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

• Seizures
• Hearing impairment
• Ataxia
• Nystagmus
• Hyperreflexia

SOURCES: OMIM MENDELIAN

Medium match HUNTINGTON DISEASE-LIKE 2

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

• Seizures
• Ataxia
• Hyperreflexia
• Dysarthria
• Gait disturbance

SOURCES: OMIM ORPHANET MESH MENDELIAN

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

• Ataxia
• Nystagmus
• Delayed speech and language development
• Motor delay
• Hyperreflexia

SOURCES: OMIM ORPHANET MENDELIAN

Medium match LAFORA DISEASE

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

LAFORA DISEASE Is also known as epm2a|lafora disease|progressive myoclonus epilepsy type 2|lafora body disease|pme type 2|epilepsy, progressive myoclonic, 2a|melf|epm2|lbd|progressive myoclonic epilepsy type 2

• Seizures
• Ataxia
• Cognitive impairment
• Dysarthria
• Gait disturbance

SOURCES: OMIM ORPHANET MESH MENDELIAN