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Abortive cerebellar ataxia(BEHRS)

MedGen UID:
66358
Concept ID:
C0221061
Disease or Syndrome
Synonyms: Behr syndrome; BEHRS; Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; Optic atrophy, infantile hereditary, Behr complicated form of; OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
 
Gene (location): OPA1 (3q29)
 
Monarch Initiative: MONDO:0008858
OMIM®: 210000

Definition

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984). Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III. [from OMIM]

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Periventricular leukomalacia
MedGen UID:
6072
Concept ID:
C0023529
Disease or Syndrome
Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Cerebellar vermis atrophy
MedGen UID:
149271
Concept ID:
C0742028
Disease or Syndrome
Wasting (atrophy) of the vermis of cerebellum.
Sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Sensory axonal neuropathy
MedGen UID:
334116
Concept ID:
C1842587
Finding
An axonal neuropathy of peripheral sensory nerves.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Progressive spasticity
MedGen UID:
347171
Concept ID:
C1859520
Finding
Spasticity that increases in degree with time.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Anatomical Abnormality
A contracture of the Achilles tendon.
Hamstring contractures
MedGen UID:
98375
Concept ID:
C0410266
Anatomical Abnormality
Frequent falls
MedGen UID:
163408
Concept ID:
C0850703
Finding
Adductor longus contractures
MedGen UID:
347903
Concept ID:
C1859524
Anatomical Abnormality
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Hypoplastic optic chiasm
MedGen UID:
767486
Concept ID:
C3554572
Finding
Developmental defect characterized by undergrowth of the optic chiasm.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbortive cerebellar ataxia
Follow this link to review classifications for Abortive cerebellar ataxia in Orphanet.

Recent clinical studies

Etiology

Zheng J, Croteau DL, Bohr VA, Akbari M
Nucleic Acids Res 2019 May 7;47(8):4086-4110. doi: 10.1093/nar/gkz083. PMID: 30986824Free PMC Article
Tsai HF, Liu CS, Chen GD, Lin ML, Li C, Chen YY, Wang BT, Hsieh M
J Clin Lab Anal 2003;17(5):195-200. doi: 10.1002/jcla.10092. PMID: 12938149Free PMC Article
Kleijer WJ, van der Kraan M, Los FJ, Jaspers NG
Int J Radiat Biol 1994 Dec;66(6 Suppl):S167-74. PMID: 7836844
Rosenfeld JV
Ann Acad Med Singap 1993 May;22(3 Suppl):464-9. PMID: 8215202

Diagnosis

Danish E, Alhashem A, Naaman N, Almhmoudi F, Mushiba A, Almatrafi A, Raggam A, Bukhari R
J AAPOS 2024 Oct;28(5):104007. Epub 2024 Sep 19 doi: 10.1016/j.jaapos.2024.104007. PMID: 39304031
Imamura R, Saito M, Shimada M, Kobayashi J, Ishiai M, Matsumoto Y
J Radiat Res 2023 May 25;64(3):485-495. doi: 10.1093/jrr/rrad007. PMID: 36940705Free PMC Article
Pilloni G, Vogel-Eyny A, Lustberg M, Best P, Malik M, Walton-Masters L, George A, Mirza I, Zhovtis L, Datta A, Bikson M, Krupp L, Charvet L
Brain Stimul 2022 May-Jun;15(3):707-716. Epub 2022 Apr 22 doi: 10.1016/j.brs.2022.04.014. PMID: 35470019
Chiang SC, Liversidge K, El-Khamisy SF
Methods Mol Biol 2018;1703:173-181. doi: 10.1007/978-1-4939-7459-7_13. PMID: 29177742
Cao DH, Liu XL, Qiu GB
J Genet 2011 Aug;90(2):369-72. doi: 10.1007/s12041-011-0090-x. PMID: 21869492

Therapy

Pilloni G, Vogel-Eyny A, Lustberg M, Best P, Malik M, Walton-Masters L, George A, Mirza I, Zhovtis L, Datta A, Bikson M, Krupp L, Charvet L
Brain Stimul 2022 May-Jun;15(3):707-716. Epub 2022 Apr 22 doi: 10.1016/j.brs.2022.04.014. PMID: 35470019
Ammann AJ, Wara DW, Doyle NE, Golbus MS
Transplantation 1975 Dec;20(6):457-66. doi: 10.1097/00007890-197512000-00003. PMID: 1209726

Prognosis

Rosenfeld JV
Ann Acad Med Singap 1993 May;22(3 Suppl):464-9. PMID: 8215202

Clinical prediction guides

El-Khamisy SF, Saifi GM, Weinfeld M, Johansson F, Helleday T, Lupski JR, Caldecott KW
Nature 2005 Mar 3;434(7029):108-13. doi: 10.1038/nature03314. PMID: 15744309

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